Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

ABSTRACT:

Purpose

We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome).

Methods

Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers.

Results

We identified multiple variant types in MSL3 (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, one multi-exon deletion), most proven to be de novo, and clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of missense and splice variants indicated that these ha

SUBMITTER: Brunet T 

PROVIDER: S-EPMC7862064 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature