![]() Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2016. Maenner MJ, Shaw KA, Baio J, Washington A, Patrick M, DiRienzo M, et al. Thus, periodical reevaluation of ES data should be strongly encouraged in undiagnosed ASD patients. ![]() Based on our simple simulation, diagnostic yield is improving over time. Our simulation indicated that the diagnostic yield is increasing by 0.63% (range 0–2.5%) per year. Notably, there was a higher molecular diagnostic rate in simplex cases than in multiplex families. We analyzed affected sibling cases of 24 quads and 2 quintets, but only one pair of siblings shared an identical pathogenic variant. The molecular diagnosis rate in females was significantly higher than that in males. Among the 55 disease-causing SNVs/indels, 51 occurred de novo, 2 were compound heterozygous (in one patient), and 2 were X-linked hemizygous variants inherited from unaffected mothers. We identified 55 disease-causing SNVs/indels in 53 affected individuals and 13 disease-causing CNVs in 13 affected individuals, achieving a molecular diagnosis in 66 of 405 affected individuals (16.3%). All candidate variants were validated by Sanger sequencing or quantitative polymerase chain reaction and were evaluated using the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines for molecular diagnosis. We analyzed 405 patients with ASD using family-based exome sequencing to detect disease-causing single-nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variations (CNVs) for molecular diagnoses. Genetic heritability in ASD is estimated as 60–90%, and genetic investigations have revealed many monogenic factors. ![]() Naomichi Matsumoto ORCID: /0000-0001-9846-6500 2Īutism spectrum disorder (ASD) is caused by combined genetic and environmental factors.Molecular diagnosis of 405 individuals with autism spectrum disorder ![]()
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