机构：[1]Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children’s Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children’s Hospital, Kunming 650228, Yunnan, China[2]Department of Otolaryngology, Head and Neck Surgery, Kunming Children’s Hospital, Kunming 650228, Yunnan, China[3]Department of Radiology, Kunming Children’s Hospital, Kunming 650228, Yunnan, China[4]Department of Otolaryngology, First Hospital of Kunming Medical University, Kunming 650228, Yunnan, China昆明医科大学附属第一医院
Waardenburg syndrome (WS) is a congenital hereditary disease, attributed to the most common symptoms of sensorineural deafness and iris hypopigmentation. It is also known as the hearing-pigmentation deficient syndrome. Mutations on SOXl0 gene often lead to congenital deafness and has been shown to play an important role in the pathogenesis of WS. We investigated one family of five members, with four patients exhibiting the classic form of WS2, whose DNA samples were analyzed by the technique of Whole-exome sequencing (WES). From analysis of WES data, we found that both the mother and all three children in this family have a heterozygous mutation on the SOX10 gene. The mutation was c.298_300delinsGG in exon 2 of SOX10 (NM_006941), which leads to a frameshift of nine nucleotides, hence the amino acids (p. S100Rfs*9) is altered and the protein translation may be terminated prematurely. Further flow cytometry confirmed significant downregulation of SOX10 protein, which indicated the the SOX10 gene mutation was responsible for the pathogenesis of WS2 patients. In addition, we speculated that some other mutated genes might be related to disease phenotype in this family, which might also participate in promoting the progression of WS2.Copyright 2020 The Author(s).
基金：
This work was supported by the National Natural Science Fund of China [grant numbers 81560262, 81660175]; the Basic Applied
Study Planning Projects of Yunnan Province [grant numbers 2015FB090, 2018FB130]; the High-level Health and Family Planning
Technical Personnel Training Projects of Yunnan Province [grant numbers D-2019017]; the Kunming Research Center for Exosome
Immunotherapy of Malignant Tumors in Children [grant number 2018-SW(R)-5]; the Kunming Health Science and Technology
Talent Project-10 Projects [grant number 2020-SW(P)-11]; the Yunnan Key Laboratory of Children’s Major Disease Research [grant
number 202005AG070073]; and the Yunnan Medical Center for Pediatric Diseases and Yunnan Children’s Hearing Impairment and
Speech Disease Comprehensive Prevention Innovation Team [grant number 2019HC026].
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2020]版：
大类|3 区生物
小类|4 区生化与分子生物学4 区细胞生物学
最新[2023]版：
大类|3 区生物学
小类|3 区生化与分子生物学4 区细胞生物学
第一作者：
第一作者机构：[1]Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children’s Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children’s Hospital, Kunming 650228, Yunnan, China
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Li Li,Ma Jing,He Xiao-Li,et al.Waardenburg Syndrome Type II in a Chinese Pedigree Caused by Frameshift Mutation in the SOX10 Gene[J].Bioscience reports.2020,doi:10.1042/BSR20193375.
APA：
Li Li,Ma Jing,He Xiao-Li,Zhou Yuan-Tao,Zhang Yu...&Zhang Tie-Song.(2020).Waardenburg Syndrome Type II in a Chinese Pedigree Caused by Frameshift Mutation in the SOX10 Gene.Bioscience reports,,
MLA：
Li Li,et al."Waardenburg Syndrome Type II in a Chinese Pedigree Caused by Frameshift Mutation in the SOX10 Gene".Bioscience reports .(2020)
