FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

ABSTRACT:

Background

Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perinatal death.

Case presentation

We provide a genotype- and phenotype-oriented literature overview of FLNA hemizygous mutations and report on two live-born male FLNA mutation carriers. Firstly, we identified a de novo, missense mutation (c.238C > G, p.(Leu80Val)) in a five-year old Indian boy who presented with periventricular nodular heterotopia, increased skin laxity, joint hypermobility, mitral valve prolapse with regurgitation and marked facial features (e.g. a flat face, orbital fullness

SUBMITTER: Cannaerts E 

PROVIDER: S-EPMC6083619 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature