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Polymorphisms in the oxytocin receptor gene are associated with the development of psychopathy.

September 23, 2014 - 6:01am
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Polymorphisms in the oxytocin receptor gene are associated with the development of psychopathy.

Dev Psychopathol. 2014 Feb;26(1):21-31

Authors: Dadds MR, Moul C, Cauchi A, Dobson-Stone C, Hawes DJ, Brennan J, Urwin R, Ebstein RE

Abstract
The co-occurrence of child conduct problems (CPs) and callous-unemotional (CU) traits confers risk for psychopathy. The oxytocin (OXT) system is a likely candidate for involvement in the development of psychopathy. We tested variations in the OXT receptor gene (OXTR) in CP children and adolescents with varying levels of CU traits. Two samples of Caucasian children, aged 4-16 years, who met DSM criteria for disruptive behavior problems and had no features of autism spectrum disorder, were stratified into low versus high CU traits. Measures were the frequencies of nine candidate OXTR polymorphisms (single nucleotide polymorphisms). In Sample 1, high CU traits were associated with single nucleotide polymorphism rs1042778 in the 3' untranslated region of OXTR and the CGCT haplotype of rs2268490, rs2254298, rs237889, and rs13316193. The association of rs1042778 was replicated in the second rural sample and held across gender and child versus adolescent age groups. We conclude that polymorphic variation of the OXTR characterizes children with high levels of CU traits and CPs. The results are consistent with a hypothesized role of OXT in the developmental antecedents of psychopathy, particularly the differential amygdala activation model of psychopathic traits, and add genetic evidence that high CU traits specify a distinct subgroup within CP children.

PMID: 24059750 [PubMed - indexed for MEDLINE]

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

September 19, 2014 - 7:41am

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

Genet Med. 2014 Sep 18;

Authors: Gandin I, Faletra F, Faletra F, Carella M, Pecile V, Ferrero GB, Biamino E, Palumbo P, Palumbo O, Bosco P, Romano C, Belcaro C, Vozzi D, d'Adamo AP

Abstract
Purpose:The harmful effects of inbreeding are well known by geneticists, and several studies have already reported cases of intellectual disability caused by recessive variants in consanguineous families. Nevertheless, the effects of inbreeding on the degree of intellectual disability are still poorly investigated. Here, we present a detailed analysis of the homozygosity regions in a cohort of 612 patients with intellectual disabilities of different degrees.Methods:We investigated (i) the runs of homozygosity distribution between syndromic and nonsyndromic ID (ii) the effect of runs of homozygosity on the ID degree, using the intelligence quotient score.Results:Our data revealed no significant differences in the first analysis; instead we detected significantly larger runs of homozygosity stretches in severe ID compared to nonsevere ID cases (P = 0.007), together with an increase of the percentage of genome covered by runs of homozygosity (P = 0.03).Conclusion:In accord with the recent findings regarding autism and other neurological disorders, this study reveals the important role of autosomal recessive variants in intellectual disability. The amount of homozygosity seems to modulate the degree of cognitive impairment despite the intellectual disability cause.Genet Med advance online publication 18 September 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.118.

PMID: 25232855 [PubMed - as supplied by publisher]

De novo TBR1 mutations in sporadic autism disrupt protein functions.

September 19, 2014 - 7:41am

De novo TBR1 mutations in sporadic autism disrupt protein functions.

Nat Commun. 2014;5:4954

Authors: Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE

Abstract
Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.

PMID: 25232744 [PubMed - as supplied by publisher]

Autism: pinpointing common deficits.

September 19, 2014 - 7:41am
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Autism: pinpointing common deficits.

Nat Rev Neurosci. 2014 Aug;15(8):493

Authors: Yates D

PMID: 25158355 [PubMed - indexed for MEDLINE]

Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors.

September 19, 2014 - 7:41am
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Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors.

Cell. 2014 Jul 3;158(1):198-212

Authors: Rothwell PE, Fuccillo MV, Maxeiner S, Hayton SJ, Gokce O, Lim BK, Fowler SC, Malenka RC, Südhof TC

Abstract
In humans, neuroligin-3 mutations are associated with autism, whereas in mice, the corresponding mutations produce robust synaptic and behavioral changes. However, different neuroligin-3 mutations cause largely distinct phenotypes in mice, and no causal relationship links a specific synaptic dysfunction to a behavioral change. Using rotarod motor learning as a proxy for acquired repetitive behaviors in mice, we found that different neuroligin-3 mutations uniformly enhanced formation of repetitive motor routines. Surprisingly, neuroligin-3 mutations caused this phenotype not via changes in the cerebellum or dorsal striatum but via a selective synaptic impairment in the nucleus accumbens/ventral striatum. Here, neuroligin-3 mutations increased rotarod learning by specifically impeding synaptic inhibition onto D1-dopamine receptor-expressing but not D2-dopamine receptor-expressing medium spiny neurons. Our data thus suggest that different autism-associated neuroligin-3 mutations cause a common increase in acquired repetitive behaviors by impairing a specific striatal synapse and thereby provide a plausible circuit substrate for autism pathophysiology.

PMID: 24995986 [PubMed - indexed for MEDLINE]

How far can mice carry autism research?

September 19, 2014 - 7:41am
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How far can mice carry autism research?

Cell. 2014 Jul 3;158(1):13-4

Authors: Hyman SE

Abstract
In the face of growing controversy about the utility of genetic mouse models of human disease, Rothwell et al. report on a shared mechanism by which two different neuroligin-3 mutations, associated with autism spectrum disorders in humans, produce an enhancement in motor learning. The open question is how much we can learn about human ills from such models.

PMID: 24995974 [PubMed - indexed for MEDLINE]

Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function.

September 19, 2014 - 7:41am
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Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function.

PLoS One. 2014;9(1):e85768

Authors: Bersten DC, Bruning JB, Peet DJ, Whitelaw ML

Abstract
Neuronal Per-Arnt-Sim homology (PAS) Factor 4 (NPAS4) is a neuronal activity-dependent transcription factor which heterodimerises with ARNT2 to regulate genes involved in inhibitory synapse formation. NPAS4 functions to maintain excitatory/inhibitory balance in neurons, while mouse models have shown it to play roles in memory formation, social interaction and neurodegeneration. NPAS4 has therefore been implicated in a number of neuropsychiatric or neurodegenerative diseases which are underpinned by defects in excitatory/inhibitory balance. Here we have explored a broad set of non-synonymous human variants in NPAS4 and ARNT2 for disruption of NPAS4 function. We found two variants in NPAS4 (F147S and E257K) and two variants in ARNT2 (R46W and R107H) which significantly reduced transcriptional activity of the heterodimer on a luciferase reporter gene. Furthermore, we found that NPAS4.F147S was unable to activate expression of the NPAS4 target gene BDNF due to reduced dimerisation with ARNT2. Homology modelling predicts F147 in NPAS4 to lie at the dimer interface, where it appears to directly contribute to protein/protein interaction. We also found that reduced transcriptional activation by ARNT2 R46W was due to disruption of nuclear localisation. These results provide insight into the mechanisms of NPAS4/ARNT dimerisation and transcriptional activation and have potential implications for cognitive phenotypic variation and diseases such as autism, schizophrenia and dementia.

PMID: 24465693 [PubMed - indexed for MEDLINE]

The effects of aging on the BTBR mouse model of autism spectrum disorder.

September 17, 2014 - 7:01am

The effects of aging on the BTBR mouse model of autism spectrum disorder.

Front Aging Neurosci. 2014;6:225

Authors: Jasien JM, Daimon CM, Wang R, Shapiro BK, Martin B, Maudsley S

Abstract
Autism spectrum disorder (ASD) is a complex heterogeneous neurodevelopmental disorder characterized by alterations in social functioning, communicative abilities, and engagement in repetitive or restrictive behaviors. The process of aging in individuals with autism and related neurodevelopmental disorders is not well understood, despite the fact that the number of individuals with ASD aged 65 and older is projected to increase by over half a million individuals in the next 20 years. To elucidate the effects of aging in the context of a modified central nervous system, we investigated the effects of age on the BTBR T + tf/j mouse, a well characterized and widely used mouse model that displays an ASD-like phenotype. We found that a reduction in social behavior persists into old age in male BTBR T + tf/j mice. We employed quantitative proteomics to discover potential alterations in signaling systems that could regulate aging in the BTBR mice. Unbiased proteomic analysis of hippocampal and cortical tissue of BTBR mice compared to age-matched wild-type controls revealed a significant decrease in brain derived neurotrophic factor and significant increases in multiple synaptic markers (spinophilin, Synapsin I, PSD 95, NeuN), as well as distinct changes in functional pathways related to these proteins, including "Neural synaptic plasticity regulation" and "Neurotransmitter secretion regulation." Taken together, these results contribute to our understanding of the effects of aging on an ASD-like mouse model in regards to both behavior and protein alterations, though additional studies are needed to fully understand the complex interplay underlying aging in mouse models displaying an ASD-like phenotype.

PMID: 25225482 [PubMed]

Variants of the CNTNAP2 5' promoter as risk factors for autism spectrum disorders: a genetic and functional approach.

September 17, 2014 - 7:01am

Variants of the CNTNAP2 5' promoter as risk factors for autism spectrum disorders: a genetic and functional approach.

Mol Psychiatry. 2014 Sep 16;

Authors: Chiocchetti AG, Kopp M, Waltes R, Haslinger D, Duketis E, Jarczok TA, Poustka F, Voran A, Graab U, Meyer J, Klauck SM, Fulda S, Freitag CM

Abstract
Contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin gene superfamily, is one of the best-replicated risk genes for autism spectrum disorders (ASD). ASD are predominately genetically determined neurodevelopmental disorders characterized by impairments of language development, social interaction and communication, as well as stereotyped behavior and interests. Although CNTNAP2 expression levels were proposed to alter ASD risk, no study to date has focused on its 5' promoter. Here, we directly sequenced the CNTNAP2 5' promoter region of 236 German families with one child with ASD and detected four novel variants. Furthermore, we genotyped the three most frequent variants (rs150447075, rs34712024, rs71781329) in an additional sample of 356 families and found nominal association of rs34712024G with ASD and rs71781329GCG[7] with language development. The four novel and the three known minor alleles of the identified variants were predicted to alter transcription factor binding sites (TFBS). At the functional level, the respective sequences spanning these seven variants were bound by nuclear factors. In a luciferase promoter assay, the respective minor alleles showed cell line-specific and differentiation stage-dependent effects at the level of promoter activation. The novel potential rare risk-variant M2, a G>A mutation -215 base pairs 5' of the transcriptional start site, significantly reduced promoter efficiency in HEK293T and in undifferentiated and differentiated neuroblastoid SH-SY5Y cells. This variant was transmitted to a patient with autistic disorder. The under-transmitted, protective minor G allele of the common variant rs34712024, in contrast, increased transcriptional activity. These results lead to the conclusion that the pathomechanism of CNTNAP2 promoter variants on ASD risk is mediated by their effect on TFBSs, and thus confirm the hypothesis that a reduced CNTNAP2 level during neuronal development increases liability for ASD.Molecular Psychiatry advance online publication, 16 September 2014; doi:10.1038/mp.2014.103.

PMID: 25224256 [PubMed - as supplied by publisher]

Future Directions for Research in Autism Spectrum Disorders.

September 13, 2014 - 7:07am

Future Directions for Research in Autism Spectrum Disorders.

J Clin Child Adolesc Psychol. 2014 September-October;43(5):828-843

Authors: Damiano CR, Mazefsky CA, White SW, Dichter GS

Abstract
This article suggests future directions for research aimed at improving our understanding of the etiology and pathophysiology of autism spectrum disorder (ASD) as well as pharmacologic and psychosocial interventions for ASD across the lifespan. The past few years have witnessed unprecedented transformations in the understanding of ASD neurobiology, genetics, early identification, and early intervention. However, recent increases in ASD prevalence estimates highlight the urgent need for continued efforts to translate novel ASD discoveries into effective interventions for all individuals with ASD. In this article we highlight promising areas for ongoing and new research expected to quicken the pace of scientific discovery and ultimately the translation of research findings into accessible and empirically supported interventions for those with ASD. We highlight emerging research in the following domains as particularly promising and pressing: (a) preclinical models, (b) experimental therapeutics, (c) early identification and intervention, (d) psychiatric comorbidities and the Research Domain Criteria initiative, (e) ecological momentary assessment, (f) neurotechnologies, and (g) the needs of adults with ASD. Increased research emphasis in these areas has the potential to hasten the translation of knowledge on the etiological mechanisms of ASD to psychosocial and biological interventions to reduce the burden of ASD on affected individuals and their families.

PMID: 25216048 [PubMed - as supplied by publisher]

Clinical and neuropsychiatric status in children with Williams-Beuren Syndrome in Upper Egypt.

September 13, 2014 - 7:07am
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Clinical and neuropsychiatric status in children with Williams-Beuren Syndrome in Upper Egypt.

Asian J Psychiatr. 2013 Dec;6(6):560-5

Authors: Saad K, Abdelrahman AA, Abdallah AM, Othman HA, Badry R

Abstract
UNLABELLED: The aim of this study was to evaluate and explore the clinical, neuropsychiatric status and EEG pattern in a series of children with Williams-Beuren syndrome (WBS) in Assiut, Upper Egypt. We aimed to provide a comprehensive data comparable to what has been published, to enable us to make comparisons across different cultural areas. This will contribute to a better definition of the neuropsychiatric features that may be specific to WBS that allows early and better detection and management of those children.
MATERIALS AND METHODS: A series of 17 WBS children patients who consulted at our hospital were evaluated. The patients were assessed mainly for clinical, neurological, psychiatric and EEG status. We performed FISH for all patients.
RESULTS: All patients had a deletion of the long arm of chromosome 7 (7q 11.23). All had elfin facies. Neurological examination revealed hypotonia in 25% of patients and rigidity (12.50%), brisk deep tendon reflexes (25%), abnormal plantar response (12.50%). Cerebellar and extrapyramidal signs were frequent: dysmetria (31.25%), dysdiadochokinesia (31.25%) and ataxia (18.75%). Epileptic seizures were present in 31.25% of patients and ADHD (37.5%). Autism was present in one patient. EEG abnormalities were present in 31.25%. Congenital cardiopathies were present in 62.50%.
CONCLUSION: Our data showed that WBS children had multi-systemic clinical complications and the management of those patients requires the pediatrician to understand the natural course of this condition, awareness of potential medical problems, and periodic baseline clinical, neuropsychiatric evaluations, monitoring, and rapid intervention to improve the medical care for patients who have WBS.

PMID: 24309873 [PubMed - indexed for MEDLINE]

[Neuroanatomical, genetic and neurochemical aspects of infantile autism].

September 12, 2014 - 6:15am
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[Neuroanatomical, genetic and neurochemical aspects of infantile autism].

Psychiatr Pol. 2013 Nov-Dec;47(6):1101-11

Authors: Gerhant A, Olajossy M, Olajossy-Hilkesberger L

Abstract
Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism.

PMID: 25007541 [PubMed - indexed for MEDLINE]

A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?

September 12, 2014 - 6:15am
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A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?

Am J Med Genet A. 2014 Feb;164A(2):287-90

Authors: Roberts J, Torres-Martinez W, Farrow E, Stevens A, Delk P, White KE, Weaver DD

Abstract
In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not been previously reported. Features of particular interest are the radiohumeral synostosis and microgastria, both of which are rare defects, and to our knowledge, have not been reported to occur together. We propose that the patient has a newly recognized syndrome consisting of the aforementioned features, the etiology of which is unknown.

PMID: 24311538 [PubMed - indexed for MEDLINE]

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.

September 12, 2014 - 6:15am
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Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.

Am J Med Genet A. 2014 Feb;164A(2):500-4

Authors: Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L

Abstract
Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder. The majority of individuals with PTLS harbor a de novo microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.6 Mb microdeletion in the Smith-Magenis syndrome critical region. Here, we report on the transmission of the PTLS duplication across two generations in two separate families. Individuals in these families presented initially with developmental delay, behavior problems, and intellectual disability. We provide a detailed review of the clinical and developmental phenotype of inherited PTLS in both families. This represents the second report (second and third families) of PTLS in a parent-child pair and exemplifies the under-diagnosis of this and likely other genetic conditions in adults with intellectual disability and/or psychiatric disorders.

PMID: 24311450 [PubMed - indexed for MEDLINE]

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

September 12, 2014 - 6:15am
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Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

Am J Med Genet A. 2014 Feb;164A(2):377-85

Authors: Palmer E, Speirs H, Taylor PJ, Mullan G, Turner G, Einfeld S, Tonge B, Mowat D

Abstract
Chromosomal microarray (CMA) is the first-line diagnostic test for individuals with intellectual disability, autism, or multiple congenital anomalies, with a 10-20% diagnostic yield. An ongoing challenge for the clinician and laboratory scientist is the interpretation of variants of uncertain significance (VOUS)-usually rare, unreported genetic variants. Laboratories differ in their threshold for reporting VOUS, and clinical practice varies in how this information is conveyed to the family and what follow-up is arranged. Workflows, websites, and databases are constantly being updated to aid the interpretation of VOUS. There is a growing literature reporting new microdeletion and duplication syndromes, susceptibility, and modifier copy number variants (CNVs). Diagnostic methods are also evolving with new array platforms and genome builds. In 2010, high-resolution arrays (Affymetrix 2.7 M Oligo and SNP, 50 kB resolution) were performed on a community cohort of 67 individuals with intellectual disability of unknown aetiology. Three hundred and one CNVs were detected and analyzed using contemporary resources and a simple scoring system. Thirteen (19%) of the arrays were assessed as potentially pathogenic, 4 (6%) as benign and 50 (75%) of uncertain clinical significance. The CNV data were re-analyzed in 2012 using the contemporary interpretative resources. There was a statistically significant difference in the assessment of individual CNVs (P < 0.0001). An additional eight patients were reassessed as having a potentially pathogenic array (n = 21, 31%) and several additional susceptibility or modifier CNVs were identified. This study highlights the complexity involved in the interpretation of CMA and uniquely demonstrates how, even on the same array platform, it can be subject to change over time.

PMID: 24311194 [PubMed - indexed for MEDLINE]

Maternal methyl supplemented diets and effects on offspring health.

September 11, 2014 - 8:32am

Maternal methyl supplemented diets and effects on offspring health.

Front Genet. 2014;5:289

Authors: O'Neill RJ, Vrana PB, Rosenfeld CS

Abstract
Women seeking to become pregnant and pregnant women are currently advised to consume high amounts of folic acid and other methyl donors to prevent neural tube defects in their offspring. These diets can alter methylation patterns of several biomolecules, including nucleic acids, and histone proteins. Limited animal model data suggests that developmental exposure to these maternal methyl supplemented (MS) diets leads to beneficial epimutations. However, other rodent and humans studies have yielded opposing findings with such diets leading to promiscuous epimutations that are likely associated with negative health outcomes. Conflict exists to whether these maternal diets are preventative or exacerbate the risk for Autism Spectrum Disorders (ASD) in children. This review will discuss the findings to date on the potential beneficial and aversive effects of maternal MS diets. We will also consider how other factors might influence the effects of MS diets. Current data suggest that there is cause for concern as maternal MS diets may lead to epimutations that underpin various diseases, including neurobehavioral disorders. Further studies are needed to explore the comprehensive effects maternal MS diets have on the offspring epigenome and subsequent overall health.

PMID: 25206362 [PubMed]

The social brain network and autism.

September 11, 2014 - 8:32am

The social brain network and autism.

Ann Neurosci. 2014 Apr;21(2):69-73

Authors: Misra V

Abstract
Available research data in Autism suggests the role of a network of brain areas, often known as the 'social brain'. Recent studies highlight the role of genetic mutations as underlying patho-mechanism in Autism. This mini review, discusses the basic concepts behind social brain networks, theory of mind and genetic factors associated with Autism. It critically evaluates and explores the relationship between the behavioral outcomes and genetic factors providing a conceptual framework for understanding of autism.

PMID: 25206065 [PubMed]

A CGG-Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in two Families.

September 10, 2014 - 7:45am
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A CGG-Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in two Families.

Hum Mutat. 2014 Sep 4;

Authors: Metsu S, Rainger JK, Debacker K, Bernhard B, Rooms L, Grafodatskaya D, Weksberg R, Fombonne E, Taylor MS, Scherer SW, Kooy RF, FitzPatrick DR

Abstract
We report de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A in a male with an autistic spectrum disorder (ASD) due to a CGG-repeat expansion mutation (∼450 repeats) in a 5' intron of ZNF713. This expanded allele showed hypermethylation of the adjacent CpG island with reduced ZNF713 expression observed in a proband-derived lymphoblastoid cell line (LCL). His unaffected mother carried an unmethylated pre-mutation (85 repeats). This CGG-repeat showed length polymorphism in control samples (5-22 repeats). In a second unrelated family three siblings with ASD and their unaffected father were found to carry FRA7A pre-mutations, which were partially or mosaically methylated. In one of the affected siblings mitotic instability of the pre-mutation was observed. ZNF713 expression in LCLs in this family was increased in 3 of these 4 premutation carriers. A firm link cannot yet be established between ASD and the repeat expansion mutation but plausible pathogenic mechanisms are discussed. This article is protected by copyright. All rights reserved.

PMID: 25196122 [PubMed - as supplied by publisher]

[Participation of mTOR signal system in autistic behavior of mice modeling tuberous sclerosis].

September 10, 2014 - 7:45am
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[Participation of mTOR signal system in autistic behavior of mice modeling tuberous sclerosis].

Nihon Shinkei Seishin Yakurigaku Zasshi. 2014 Apr;34(2):51-2

Authors: Sato A, Kasai S, Kobayashi T, Takamatsu Y, Hino O, Ikeda K, Mizuguchi M

PMID: 25141393 [PubMed - indexed for MEDLINE]

Association of autism with induced or augmented childbirth.

September 10, 2014 - 7:45am
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Association of autism with induced or augmented childbirth.

Am J Obstet Gynecol. 2014 May;210(5):492-3

Authors: Miranda ML, Anthopolos R, Gregory SG

PMID: 24380745 [PubMed - indexed for MEDLINE]

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