More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.

ABSTRACT:

Background

Infant death in keratitis-ichthyosis-deafness (KID) syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately understood.

Objective

We sought to discover characteristics that account for poor outcomes in lethal KID syndrome.

Methods

We collected 4 new cases and 9 previously reported, genotyped cases of lethal KID syndrome. We performed new molecular modeling of the lethal mutants GJB2 p.A88V and GJB2 p.G45E.

Results

Infant death occurred in all patients with GJB2 p.G45E and p.A88V; it is unusual with other GJB2 mutations. Early death with those 2 "lethal" mutations is likely multifactorial: during life all had ≥1 serious infection; most had poor weight gain and severe respiratory difficulties; many had additi

SUBMITTER: Lilly E 

PROVIDER: S-EPMC6372339 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature