Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

ABSTRACT:

Background

Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper- and hypopigmentation, all of which are inherited in an autosomal dominant manner.

Objectives

To describe the genotypic and clinical spectrum of biallelic KITLG-variants.

Methods

We used a genotype-first approach through the GeneMatcher data sharing platform to collect individuals with biallelic KITLG variants and reviewed the literature for overlapping reports.

Results

We describe the first case series with biallelic KITLG variants; we expand the known hypomelanosis spectrum to include a 'sock-and-glove-like', symm

SUBMITTER: Vona B 

PROVIDER: S-EPMC9546089 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature