Novel variants in EDNRB gene in waardenburg syndrome type II and SOX10 gene in PCWH syndrome.

xloma.fota.13 shared this article with you from Inoreader Novel variants in EDNRB gene in waardenburg syndrome type II and SOX10 gene in PCWH syndrome. Via International journal of pediatric otorhinolaryngology,http://goo.gl/4YdRhz Related Articles Novel variants in EDNRB gene in waardenburg syndrome type II and SOX10 gene in PCWH syndrome. Int J Pediatr Otorhinolaryngol. 2020 Nov 13;:110499 Authors: Varga L, Danis D, Drsata J, Masindova I, Skopkova M, Slobodova Z, Chrobok V, Profant M, Gasperikova D Abstract Waardenburg syndrome (WS) is a clinically and genetically heterogeneous group of inherited disorders manifesting with sensorineural hearing loss and pigmentary anomalies. Here we present two Caucasian families with novel variants in EDNRB and SOX10 representing both sides of phenotype spectrum in WS. The c.521G>A variant in EDNRB identified in Family 1 leads to disruption of the cysteine disulfide bridge between extracellular segments of endothelin receptor type B and causes relatively mild phenotype of WS type II with low penetrance. The novel nonsense variant c.900C>A in SOX10 detected in Family 2 leads to PCWH syndrome and was found to be lethal. PMID: 33234331 [PubMed - as supplied by publisher] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.