Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.

ABSTRACT:

Background

Cornelia de Lange Syndrome (CdLS) presents with a variable multi-systemic phenotype and pathogenic variants have been identified in five main genes. This condition has been understudied in African populations with little phenotypic and molecular information available.

Methods and results

We present a cohort of 14 patients with clinical features suggestive of CdLS. Clinical phenotyping was carried out and cases were classified according to the international consensus criteria. According to this criteria, nine patients had classical CdLS, one had non-classical CdLS and four presented with a phenotype that suggested molecular testing for CdLS. Each patient underwent mutation profiling using a targeted next generation sequencing panel of 18 genes comprising known and

SUBMITTER: Seymour H 

PROVIDER: S-EPMC10785556 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature