Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1

Auris, Nasus, Larynx
Noriko MorimotoTatsuo Matsunaga

Abstract

To examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1). Clinical features related to Waardenburg syndrome (WS) were examined in a five-year old patient. Mutation analysis of genes related to WS was performed in the proband and her parents. Molecular modeling of EDNRB and the p.R319W mutant was conducted to predict the pathogenicity of the mutation. The proband showed sensorineural hearing loss, heterochromia iridis, and dystopia canthorum, fulfilling the clinical criteria of WS1. Genetic analyses revealed that the proband had no mutation in PAX3 which has been known as the cause of WS1, but had a homozygous missense mutation (p.R319W) in endothelin receptor type B (EDNRB) gene. The asymptomatic parents had the mutation in a heterozygote state. This mutation has been previously reported in a heterozygous state in a patient with Hirschsprung's disease unaccompanied by WS, but the patient and her parents did not show any symptoms in gastrointestinal tract. Molecular modeling of EDNRB with the p.R319W mutation demonstrated reduction of the positively charged surface area in this region, which might reduce binding ability of EDNRB to G protein and lead to abnormal signal transduction underlying the WS phenot...Continue Reading

Citations

Aug 18, 2018·Pigment Cell & Melanoma Research·Marc-Alexander RauschendorfJudith Fischer
Nov 6, 2018·Clinical Genetics·Puneeth H SomashekarAnju Shukla
Dec 6, 2018·Topics in Magnetic Resonance Imaging : TMRI·Felipe S BarrosBruno P Soares
Aug 21, 2019·Scientific Reports·Michie IdeuraShin-Ichi Usami
Aug 3, 2020·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Wu LiMeichao Men

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