New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing
Joint Authors
Yan, Denise
Liu, Xue Zhong
Li, Wu
Mei, Lingyun
Chen, Hongsheng
Cai, Xinzhang
Liu, Yalan
Men, Meichao
Ling, Jie
Feng, Yong
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-12, 12 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-02-27
Country of Publication
Egypt
No. of Pages
12
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Li, Wu& Mei, Lingyun& Chen, Hongsheng& Cai, Xinzhang& Liu, Yalan& Men, Meichao…[et al.]. 2019. New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. Neural Plasticity،Vol. 2019, no. 2019, pp.1-12.
https://search.emarefa.net/detail/BIM-1201584
Modern Language Association (MLA)
Li, Wu…[et al.]. New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. Neural Plasticity No. 2019 (2019), pp.1-12.
https://search.emarefa.net/detail/BIM-1201584
American Medical Association (AMA)
Li, Wu& Mei, Lingyun& Chen, Hongsheng& Cai, Xinzhang& Liu, Yalan& Men, Meichao…[et al.]. New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. Neural Plasticity. 2019. Vol. 2019, no. 2019, pp.1-12.
https://search.emarefa.net/detail/BIM-1201584
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1201584