{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:20:09Z","timestamp":1790706009708,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T00:00:00Z","timestamp":1653436800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["Collaborative Research Center 889"],"award-info":[{"award-number":["Collaborative Research Center 889"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pathogenic variants in <jats:italic>KITLG<\/jats:italic>, a crucial protein involved in pigmentation and neural crest cell migration, cause non\u2010syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper\u2010 and hypopigmentation, all of which are inherited in an autosomal dominant manner.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To describe the genotypic and clinical spectrum of biallelic <jats:italic>KITLG<\/jats:italic>\u2010variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We used a genotype\u2010first approach through the GeneMatcher data sharing platform to collect individuals with biallelic <jats:italic>KITLG<\/jats:italic> variants and reviewed the literature for overlapping reports.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We describe the first case series with biallelic <jats:italic>KITLG<\/jats:italic> variants; we expand the known hypomelanosis spectrum to include a \u2018sock\u2010and\u2010glove\u2010like\u2019, symmetric distribution, progressive repigmentation and generalized hypomelanosis. We speculate that <jats:italic>KITLG<\/jats:italic> biallelic loss\u2010of\u2010function variants cause generalized hypomelanosis, whilst variants with residual function lead to a variable auditory\u2010pigmentary disorder mostly reminiscent of Waardenburg syndrome type 2 or piebaldism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We provide consolidating evidence that biallelic <jats:italic>KITLG<\/jats:italic> variants cause a distinct auditory\u2010pigmentary disorder. We evidence a significant clinical variability, similar to the one previously observed in <jats:italic>KIT<\/jats:italic>\u2010related piebaldism.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.18207","type":"journal-article","created":{"date-parts":[[2022,5,11]],"date-time":"2022-05-11T08:07:23Z","timestamp":1652256443000},"page":"1606-1611","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Biallelic <scp><i>KITLG<\/i><\/scp> variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss"],"prefix":"10.1111","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6719-3447","authenticated-orcid":false,"given":"B.","family":"Vona","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"},{"name":"Institute for Auditory Neuroscience and InnerEarLab University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6080-4893","authenticated-orcid":false,"given":"D.A.","family":"Schwartzbaum","sequence":"additional","affiliation":[{"name":"John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7564-9347","authenticated-orcid":false,"given":"A.A.","family":"Rodriguez","sequence":"additional","affiliation":[{"name":"John P. 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