Damaging variants in FOXI3 cause microtia and craniofacial microsomia.

ABSTRACT:

Purpose

Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic causes of CFM remain largely unknown.

Methods

We performed genome sequencing and linkage analysis in patients and families with microtia and CFM of unknown genetic etiology. The functional consequences of damaging missense variants were evaluated through expression of wild-type and mutant proteins in vitro.

Results

We studied a 5-generation kindred with microtia, identifying a missense variant in FOXI3 (p.Arg236Trp) as the cause of disease (logarithm of the odds = 3.33). We subsequently identified 6 individuals fro

SUBMITTER: Quiat D 

PROVIDER: S-EPMC9885525 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature