Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.

ABSTRACT: The genotype-first approach has been successfully applied and has elucidated several subtypes of autism spectrum disorder (ASD). However, it requires very large cohorts because of the extensive genetic heterogeneity. We investigate the alternate possibility of whether phenotype-specific genes can be identified from a small group of patients with specific phenotype(s). To identify novel genes associated with ASD and abnormal head circumference using a phenotype-to-genotype approach, we performed whole-exome sequencing on 67 families with ASD and abnormal head circumference. Clinically relevant pathogenic or likely pathogenic variants account for 23.9% of patients with microcephaly or macrocephaly, and 81.25% of those variants or genes are head-size associated. Significantly, recurrent patho

SUBMITTER: Wu H 

PROVIDER: S-EPMC7307605 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature