Novel SOX10 mutation in a girl with type IV Waardenburg syndrome
YU Kaihui
JIANG Qian
ZHANG Zhen
LI Qi
XIAO Ping
SU Lin
ZOU Jizhen
LI Long
PAN Shangling
Abstract：Objective To improve the disease causative gene mutation spectrum and provide new information for ge-netic counseling in Waardenburg syndrome type IV (WS4), we performed molecular genetic study in an isolated patient af-fected by WS4. Literature was reviewed for reported nonsense mutations in SOX10. Methods Detailed histories were col-lected through questionnaires and physical examination. Blood samples of the patient and her parents were collected after obtaining informed consents. Suspected mutations were amplified and verified by Sanger sequencing after the next genera-tion sequencing of 172 related genes. The raw data were analyzed using molecular biological websites and the GeneTool software. Results A new de novo heterozygous mutation (c.838G>T, p.E280X) in the fourth exon of SOX10 was found in the patient. Both parents were demonstrated to be wild-type and symptom free. Conclusions The novel mutation found in our study not only enriches the mutation spectrum but also is helpful for recurrent risk evaluation and genetic counseling for this family.
Keywords：Waardenburg syndrome typeⅣSOX10 nonsense mutationTarget gene sequencingGenetic counseling
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：7( 240-246 )