The Heterozygous Mutation in a Chinese Family with Waardenburg Syndrome Type I

Overview

Journal Int J Ophthalmol

Specialty Ophthalmology

Date 2019 Sep 24

PMID 31544051

Citations 2

Authors

Huan-Huan Cheng

Shi-Qi Ling

Pei-Zhen Zhao

Wei-Li Li

Juan Deng

Affiliations

Soon will be listed here.

Abstract

The genovariation of endothelin receptor type B () was identified in a Chinese family with Waardenburg syndrome type I (WS1) in the present study. WS1 was diagnosed in a 19-year-old young man, his older sister and aunt according to WS consortium criteria. After extracting genomic DNA from the peripheral blood samples, the coding exons and intronic regions of were sequenced. A missense heterozygous mutation was found in the coding region of exon 2 in the gene on chormosome 13q22.3 of the proband. The same mutation was detected in the proband's afflicted paternal aunt and first older sister. Subsequent polyphen analysis and three-dimensional modeling confirmed that the c.469A>G heterozygous mutation in was possibly pathogenic. This is the first report of mutation as a potential disease-causing mutation in Chinese patients with WS1.

Citing Articles

The Impact of Mutant on the Two-End Black Coat Color Phenotype in Chinese Local Pigs.

Huang M, Wen Z, Huang T, Zhou X, Wang Z, Yang S Animals (Basel). 2025; 15(4).

PMID: 40002960 PMC: 11851453. DOI: 10.3390/ani15040478.

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.

Lee C, Lo M, Chen Y, Lin P, Hsu C, Chen P Mol Genet Genomic Med. 2022; 10(12):e2082.

PMID: 36331148 PMC: 9747560. DOI: 10.1002/mgg3.2082.

High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing.

Zhang S, Xu H, Tian Y, Liu D, Hou X, Zeng B Front Genet. 2021; 12:643546.

PMID: 34149797 PMC: 8212959. DOI: 10.3389/fgene.2021.643546.

References

Dastur Y, Dudhani A, Chitale A, Dasgupta S . Waardenburg syndrome with anisocoria and exotropia. J Postgrad Med. 1995; 41(4):111-2. View

Pingault V, Bondurand N, Lemort N, Sancandi M, Ceccherini I, Hugot J . A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?. J Med Genet. 2001; 38(3):205-9. PMC: 1734825. DOI: 10.1136/jmg.38.3.205. View

Lee H, Levorse J, Shin M . The endothelin receptor-B is required for the migration of neural crest-derived melanocyte and enteric neuron precursors. Dev Biol. 2003; 259(1):162-75. DOI: 10.1016/s0012-1606(03)00160-x. View

Pla P, Larue L . Involvement of endothelin receptors in normal and pathological development of neural crest cells. Int J Dev Biol. 2003; 47(5):315-25. View

Lin Y, Lai H, Hsu W, Lee P, Chen H, Chang M . Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan. J Pediatr Gastroenterol Nutr. 2007; 46(1):36-40. DOI: 10.1097/01.mpg.0000304451.54057.df. View

Saldana-Caboverde A, Kos L . Roles of endothelin signaling in melanocyte development and melanoma. Pigment Cell Melanoma Res. 2010; 23(2):160-70. PMC: 2911366. DOI: 10.1111/j.1755-148X.2010.00678.x. View

Haddad N, Ente D, Chouery E, Jalkh N, Mehawej C, Khoueir Z . Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes. Mol Syndromol. 2011; 1(4):169-175. PMC: 3042120. DOI: 10.1159/000322891. View

Yang T, Li X, Huang Q, Li L, Chai Y, Sun L . Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects. Clin Genet. 2012; 83(1):78-82. DOI: 10.1111/j.1399-0004.2012.01853.x. View

Hazan F, Ozturk A, Adibelli H, Unal N, Tukun A . A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. Mol Vis. 2013; 19:196-202. PMC: 3559089. View

10.

Yang S, Dai P, Liu X, Kang D, Zhang X, Yang W . Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II. PLoS One. 2013; 8(10):e77149. PMC: 3806753. DOI: 10.1371/journal.pone.0077149. View

11.

Ma J, Zhang T, Lin K, Sun H, Jiang H, Yang Y . Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene. Int J Pediatr Otorhinolaryngol. 2016; 85:56-61. DOI: 10.1016/j.ijporl.2016.03.043. View

12.

Nunez-Ramos R, Fernandez R, Gonzalez-Velasco M, Ruiz-Contreras J, Galan-Gomez E, Nunez-Nunez R . A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics. Pediatr Dev Pathol. 2017; 20(1):28-37. DOI: 10.1177/1093526616683883. View

13.

Yoshihara M, Sato T, Saito D, Ohara O, Kuramoto T, Suyama M . A deletion in the intergenic region upstream of Ednrb causes head spot in the rat strain KFRS4/Kyo. BMC Genet. 2017; 18(1):29. PMC: 5372274. DOI: 10.1186/s12863-017-0497-3. View

14.

Puffenberger E, Hosoda K, Washington S, Nakao K, Dewit D, Yanagisawa M . A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell. 1994; 79(7):1257-66. DOI: 10.1016/0092-8674(94)90016-7. View