Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
J Eur Acad Dermatol Venereol
; 36(9): 1606-1611, 2022 Sep.
Article
em En
| MEDLINE
| ID: mdl-35543077
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', symmetric distribution, progressive repigmentation and generalized hypomelanosis. We speculate that KITLG biallelic loss-of-function variants cause generalized hypomelanosis, whilst variants with residual function lead to a variable auditory-pigmentary disorder mostly reminiscent of Waardenburg syndrome type 2 or piebaldism.CONCLUSIONS:
We provide consolidating evidence that biallelic KITLG variants cause a distinct auditory-pigmentary disorder. We evidence a significant clinical variability, similar to the one previously observed in KIT-related piebaldism.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Piebaldismo
/
Hipopigmentação
/
Hiperpigmentação
/
Perda Auditiva Neurossensorial
Limite:
Humans
Idioma:
En
Revista:
J Eur Acad Dermatol Venereol
Assunto da revista:
DERMATOLOGIA
/
DOENCAS SEXUALMENTE TRANSMISSIVEIS
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Alemanha