Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Rebecca A RojasAnna A KutateladzeLacey PlummerMaria StamouDavid L KeefeKathyrn B SalnikovAngela DelaneyJanet E HallRuslan SadreyevFei JiEric FliersKatarina GambosovaRichard QuintonPaulina M MerinoVeronica MericqStephanie B SeminaraWilliam F CrowleyRavikumar Balasubramanian

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

SOX10 variants contribute to both anosmic (KS) and normosmic (nIHH) forms of IHH. IHH and WS represent SOX10-associated developmental defects that lie along a unifying phenotypic continuum. The SOX10-HMG domain is critical for the pathogenesis of SOX10-related human disorders.

Keyphrases

transcription factor
stem cells
endothelial cells
copy number
gene expression
case report
dna methylation