ArticleJournal of the European Academy of Dermatology and Venereology : JEADV2022
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Article in Journal of the European Academy of Dermatology and Venereology : JEADV, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Linear and whorled hypermelanosis: A multicentre retrospective cohort of 33 patients.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026Article
- Association of Waardenburg syndrome with a new mutation in theBiomedical reports · 2025Article
- Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.Human genetics · 2025Article
- Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.Orphanet journal of rare diseases · 2024Article
- Genetically modified pigs: Emerging animal models for hereditary hearing loss.Zoological research · 2024Review
- Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.Audiology research · 2023Article
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Authors and funding
20 authors at 12 institutions in 7 countries.
Funding
Abstract
backgroundPathogenic 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.
objectivesTo describe the genotypic and clinical spectrum of biallelic KITLG-variants.
methodsWe 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.
resultsWe 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.
conclusionsWe 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.
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