Case Report: genotype-phenotype correlations in <i>FLNA</i> mutations: insights from a case of multisystem dysfunction.

ABSTRACT:

Background

Filamin A (FLNA) mutations are associated with the development of numerous diseases and disorders. Although recent studies have shed light on genotype-phenotype relationships, the evidence remains fragmented.

Case presentation

Herein, we report the case of a male infant with an FLNA nonsense mutation (c.5265C>G; p.Tyr1755*) identified through trio whole-exome sequencing. The patient exhibited multisystem dysfunction, including periventricular nodular heterotopia, congenital heart disease (perimembranous ventricular septal defect), congenital short bowel syndrome, lung disease, and fatal sepsis. We analyzed this case along with a systematic review of 62 cases of male patients with FLNA mutations to explore genotype-phenotype relationships. Resu

SUBMITTER: Liu J 

PROVIDER: S-EPMC12812397 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature