Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-10-06

AUTHORS

Behrang Mahjani, Silvia De Rubeis, Christina Gustavsson Mahjani, Maureen Mulhern, Xinyi Xu, Lambertus Klei, F. Kyle Satterstrom, Jack Fu, Michael E. Talkowski, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Dorothy E. Grice, Kathryn Roeder, Bernie Devlin, Joseph D. Buxbaum

ABSTRACT

BackgroundThe Autism Sequencing Consortium identified 102 high-confidence autism spectrum disorder (ASD) genes, showing that individuals with ASD and with potentially damaging single nucleotide variation (pdSNV) in these genes had lower cognitive levels and delayed age at walking, when compared to ASD participants without pdSNV. Here, we made use of a Swedish sample of individuals with ASD (called PAGES, for Population-Based Autism Genetics & Environment Study) to evaluate the frequency of pdSNV and their impact on medical and psychiatric phenotypes, using an epidemiological frame and universal health reporting. We then combine findings with those for potentially damaging copy number variation (pdCNV).MethodsSNV and CNV calls were generated from whole-exome sequencing and chromosome microarray data, respectively. Birth and medical register data were used to collect phenotypes.ResultsOf 808 individuals assessed by sequencing, 69 (9%) had pdSNV in the 102 ASC genes, and 144 (18%) had pdSNV in the 102 ASC genes or in a larger set of curated neurodevelopmental genes (from the Deciphering Developmental Disorders study, the gene2phenotype database, and the Radboud University gene lists). Three or more individuals had pdSNV in GRIN2B, POGZ, SATB1, DYNC1H1, SCN8A, or CREBBP. In comparison, out of the 996 individuals from whom CNV were called, 105 (11%) carried one or more pdCNV, including four or more individuals with CNV in the recurrent 15q11q13, 22q11.2, and 16p11.2 loci. Carriers of pdSNV were more likely to have intellectual disability (ID) and epilepsy, while carriers of pdCNV showed increased rates of congenital anomalies and scholastic skill disorders. Carriers of either pdSNV or pdCNV were more likely to have ID, scholastic skill disorders, and epilepsy.LimitationsThe cohort only included individuals with autistic disorder, the more severe form of ASD, and phenotypes are defined from medical registers. Not all genes studied are definitively ASD genes, and we did not have de novo information to aid in classification.ConclusionsIn this epidemiological sample, rare pdSNV were more common than pdCNV and the combined yield of potentially damaging variation was substantial at 27%. The results provide compelling rationale for the use of high-throughout sequencing as part of routine clinical workup for ASD and support the development of precision medicine in ASD. More... »

PAGES

65

References to SciGraph publications

  • 2011-05-08. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants in NATURE BIOTECHNOLOGY
  • 2013-06-11. SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders in MOLECULAR AUTISM
  • 2012-10-09. Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts in MOLECULAR PSYCHIATRY
  • 2010-06-09. Functional impact of global rare copy number variation in autism spectrum disorders in NATURE
  • 2014-09-14. Refining analyses of copy number variation identifies specific genes associated with developmental delay in NATURE GENETICS
  • 2019-05-30. Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP in NATURE COMMUNICATIONS
  • 2019-07-23. Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism in GENETICS IN MEDICINE
  • 2014-07-20. Most genetic risk for autism resides with common variation in NATURE GENETICS
  • 2013-03-21. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions in GENETICS IN MEDICINE
  • 2017-01-25. Prevalence and architecture of de novo mutations in developmental disorders in NATURE
  • 2019-11-06. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) in GENETICS IN MEDICINE
  • 2016-08-17. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes in NATURE GENETICS
  • 2019-10-17. Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder in TRANSLATIONAL PSYCHIATRY
  • 2015-03-05. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology in GENETICS IN MEDICINE
  • 2021-02-25. ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data in GENOME MEDICINE
  • 2020-06-10. Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder in MOLECULAR CYTOGENETICS
  • 2020-01-06. Cohort profile: Epidemiology and Genetics of Obsessive–compulsive disorder and chronic tic disorders in Sweden (EGOS) in SOCIAL PSYCHIATRY AND PSYCHIATRIC EPIDEMIOLOGY
  • 2019-11-25. Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants in NATURE NEUROSCIENCE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13229-021-00465-3

    DOI

    http://dx.doi.org/10.1186/s13229-021-00465-3

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1141685136

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34615535


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