A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.

ABSTRACT: Two sisters (ages 16 yr and 15 yr) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy and have no other children. Oligo array, fragile X testing, and numerous single-gene tests were negative. All four family members underwent research exome sequencing, which revealed a heterozygous nonsense mutation in ASXL3 (p.R1036X) that segregated with disease. Exome data and independent Sanger sequencing confirmed that the variant is de novo, suggesting possible germline mosaicism in one parent. The p.R1036X variant has never been observed in healthy human populations and has been previously reported as a pathogenic mutation. Truncating de novo mut

SUBMITTER: Koboldt DC 

PROVIDER: S-EPMC5983172 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature