scholarly journals A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I

2019 ◽  
Vol 7 (7) ◽  
Author(s):  
Jing Ma ◽  
Ken Lin ◽  
Hong‐chao Jiang ◽  
Yanli Yang ◽  
Yu Zhang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene

A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family

2015 ◽  
Vol 79 (10) ◽  
pp. 1736-1740 ◽  
Author(s):  
Nazanin Jalilian ◽  
Mohammad Amin Tabatabaiefar ◽  
Mohammad Farhadi ◽  
Tayyeb Bahrami ◽  
Mohammad Reza Noori-Daloii
Keyword(s):  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene ◽  
Iranian Family

A novel mutation inPAX3associated with Waardenburg syndrome type I in a Chinese family

2016 ◽  
Vol 136 (5) ◽  
pp. 439-445 ◽  
Author(s):  
Yun Xiao ◽  
Jianfen Luo ◽  
Fengguo Zhang ◽  
Jianfeng Li ◽  
Yuechen Han ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome

Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I

Gene ◽  
2018 ◽  
Vol 642 ◽  
pp. 362-366 ◽  
Author(s):  
Zhijie Niu ◽  
Jiada Li ◽  
Fen Tang ◽  
Jie Sun ◽  
Xueping Wang ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I

2000 ◽  
Vol 21 (1) ◽  
pp. 25-28
Author(s):  
Vihra N. Sotirova ◽  
Tayebeh Rezaie ◽  
M.R. Khoshsorour ◽  
Mansoor Sarfarazi
Keyword(s):  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Paired Domain ◽  
Iranian Family

scholarly journals Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1

2021 ◽  
Vol 12 ◽  
Author(s):  
Qiuming Hu ◽  
Huazhong Ma ◽  
Jiawei Shen ◽  
Zongming Zhuang ◽  
Jianqiang Li ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Test ◽  
Novel Mutation ◽  
Present Report ◽  
Hereditary Disease ◽  
Chinese Family ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Whole Exome

Background: Waardenburg Syndrome Type 1 (WS1) is a rare hereditary disease, which is usually caused by the mutations of PAX3 (paired box 3). Here, we reported a pedigree with WS1, which was caused by a novel mutation in PAX3.Case Report: In this present report, a 10-year-old boy and his twin sister from a Han Chinese family presented with iris pigmentary abnormality, synophrys, and broad and high nasal root. Their father presented premature whitening of the hair, but no iris pigmentary abnormality. Their aunts presented the same clinical characteristics with the twins and premature graying of hair. However, none of the patients reported hearing loss. The clinical diagnosis of the four patients from this pedigree was WS1. The whole exome sequencing (WES) revealed a novel mutation (c.959-5T>G) in the PAX3 gene, which could be responsible for the observed pathogenic of WS1 in this pedigree. The genetic test confirmed the diagnosis of WS1 in the four patients from the studied pedigree.Conclusion: This present study demonstrated that genetic test based on WES, an effective alternative to regular clinical examinations, helps diagnose WS1. The newly identified PAX3 gene mutation can expand the understanding of WS1.

scholarly journals Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients

2007 ◽  
Vol 120 (1) ◽  
pp. 46-49 ◽  
Author(s):  
Shu-zhi YANG ◽  
Ju-yang CAO ◽  
Rui-ning ZHANG ◽  
Li-xian LIU ◽  
Xin LIU ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Nonsense Mutations ◽  
Pax3 Gene

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I

2000 ◽  
Vol 21 (1) ◽  
pp. 25-28 ◽  
Author(s):  
Vihra N. Sotirova ◽  
Tayebeh Rezaie ◽  
M.R. Khoshsorour ◽  
Mansoor Sarfarazi
Keyword(s):  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Paired Domain ◽  
Iranian Family

Two different PAX3 gene mutations causing Waardenburg syndrome type I

1996 ◽  
Vol 10 (3) ◽  
pp. 229-231 ◽  
Author(s):  
G. Wildhardt ◽  
A. Winterpacht ◽  
K. Hilbert ◽  
H. Menger ◽  
B. Zabel
Keyword(s):  
Gene Mutations ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene
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