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Neural Plasticity
Volume 2019, Article ID 7143458, 12 pages
Research Article

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

1Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China
2Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, Hunan, China
3Health Management Center, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China
4Department of Otolaryngology, University of Miami, Miller School of Medicine, Miami, USA
5Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA
6Institute of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China

Correspondence should be addressed to Jie Ling; nc.ude.gmlks@eijgnil and Yong Feng; moc.liamtoh@nh_gnoygnef

Wu Li and Lingyun Mei contributed equally to this work.

Received 26 September 2018; Accepted 22 November 2018; Published 27 February 2019

Guest Editor: Jolanta Dorszewska

Copyright © 2019 Wu Li et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Background. Waardenburg syndrome (WS) is one of the most common forms of syndromic deafness with heterogeneity of loci and alleles and variable expressivity of clinical features. Methods. The technology of single-nucleotide variants (SNV) and copy number variation (CNV) detection was developed to investigate the genotype spectrum of WS in a Chinese population. Results. Ninety WS patients and 24 additional family members were recruited for the study. Fourteen mutations had not been previously reported, including c.808C>G, c.117C>A, c.152T>G, c.803G>T, c.793-3T >G, and c.801delT on PAX3; c.642_650delAAG on MITF; c.122G>T and c.127C>T on SOX10; c.230C>G and c.365C>T on SNAI2; and c.481A>G, c.1018C>G, and c.1015C>T on EDNRB. Three CNVs were de novo and first reported in our study. Five EDNRB variants were associated with WS type 1 in the heterozygous state for the first time, with a detection rate of 22.2%. Freckles occur only in WS type 2. Yellow hair, amblyopia, congenital ptosis, narrow palpebral fissures, and pigmentation spots are rare and unique symptoms in WS patients from China. Conclusions. EDNRB should be considered as another prevalent pathogenic gene in WS type 1. Our study expanded the genotype and phenotype spectrum of WS, and diagnostic next-generation sequencing is promising for WS.