Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.

ABSTRACT:

Background

Periventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNH-associated FLNA mutations are female whereas liveborn males with FLNA mutations are very rare. Fetal viability of the males seems to depend on the severity of the variant. Splicing or severe truncations presumed loss of function of the protein product, lead to male lethality and only partial-loss-of-function variants are reported in surviving males. Those variants mostly manifest milder clinical phenotypes in females and thus avoid detection of the disease in females.

Methods

We describe a novel p.Arg484Gln variant in the FLNA gene by performing whole exome analysis on the index case, his on

SUBMITTER: Gerlevik U 

PROVIDER: S-EPMC9132340 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature