Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.

ABSTRACT: For disorders with X-linked inheritance, variants may be transmitted through multiple generations of carrier females before an affected male is ascertained. Pathogenic RS1 variants exclusively cause X-linked retinoschisis (XLRS). While RS1 is constrained to variation, recurrent variants are frequently observed in unrelated probands. Here, we investigate recurrent pathogenic variants to determine the relative burden of mutational hotspot and founder allele events to this phenomenon. A cohort RS1 variant analysis and standardized classification, including variant enrichment in the XLRS cohort and in RS1 functional domains, were performed on 332 unrelated XLRS probands. A total of 108 unique RS1 variants were identified. A subset of 19 recurrently observed <

SUBMITTER: Bender C 

PROVIDER: S-EPMC9029724 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature