ArticleJournal of neurodevelopmental disorders2011
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
Article in Journal of neurodevelopmental disorders, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 47 citations in OpenAlex.
- Understanding rare variant contributions to autism: lessons from dystrophin-deficient model.NPJ genomic medicine · 2025Article
- Phenotype Spectrum of TRPM3-Associated Disorders.Annals of neurology · 2025Article
- Social and emotional alterations in mice lacking the short dystrophin-gene product, Dp71.Behavioral and brain functions : BBF · 2024Article
- A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens.Cells · 2024Article
- Article
- Yield of array-CGH analysis in Tunisian children with autism spectrum disorder.Molecular genetics & genomic medicine · 2022Article
- Dystrophin genetic variants and autism.Discover mental health · 2022Article
- Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology.Journal of clinical medicine · 2021Article
- Mutation of the TRPM3 cation channel underlies progressive cataract development and lens calcification associated with pro-fibrotic and immune cell responses.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- TRPM3 in Brain (Patho)Physiology.Frontiers in cell and developmental biology · 2021Review
- TRPM3_miR-204: a complex locus for eye development and disease.Human genomics · 2020Review
- Frequency and Complexity of De Novo Structural Mutation in Autism.American journal of human genetics · 2016Article
- The dystrophin gene and cognitive function in the general population.European journal of human genetics : EJHG · 2015Article
- Altered social behavior and ultrasonic communication in the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy.Molecular autism · 2015Article
- Rare autosomal copy number variations in early-onset familial Alzheimer's disease.Molecular psychiatry · 2014Article
- Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.PloS one · 2014Article
- Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.American journal of human genetics · 2013Article
- Crossing the boundary between research and health care: P3G policy statement on return of results from population studies.European journal of human genetics : EJHG · 2013Article
- Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.Molecular cytogenetics · 2012Article
- An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.Molecular autism · 2011Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
Abstract
Autism spectrum disorder is a genetically complex and clinically heterogeneous neurodevelopmental disorder. A recent study by the Autism Genome Project (AGP) used 1M single-nucleotide polymorphism arrays to show that rare genic copy number variants (CNVs), possibly acting in tandem, play a significant role in the genetic aetiology of this condition. In this study, we describe the phenotypic and genomic characterisation of a multiplex autism family from the AGP study that was found to harbour a duplication of exons 31-44 of the Duchenne/Becker muscular dystrophy gene DMD and also a rare deletion involving exons 1-9 of TRPM3. Further characterisation of these extremely rare CNVs was carried out using quantitative PCR, fluorescent in situ hybridisation, long-range PCR amplification and sequencing of junction fragments. The maternal chrX:32,097,213-32,321,945 tandem duplication and paternal chr9:72,480,413-73,064,196 deletion (NCBI build 36 coordinates) were transmitted to both affected boys, potentially signifying a multi-hit mechanism. The DMD reading frame rule predicts a Becker phenotype, characterised by later onset and milder symptoms. When last evaluated, neither child had developed signs of muscular dystrophy. These data are consistent with a degree of comorbidity between autism and muscular dystrophy and suggest that genomic background as well as the position of the mutation within the DMD gene may impact on the neurological correlates of Duchenne/Becker muscular dystrophy. Finally, communicating unexpected findings such as these back to families raises a number of ethical questions, which are discussed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.