Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss.
10.3760/cma.j.issn.1003-9406.2019.05.015
- VernacularTitle:一例综合征型耳聋患者SOX10基因新发突变的产前诊断
- Author:
Chiyan ZHOU
1
;
Xiaodan LIU
;
Qinhao SONG
;
Suping LI
;
Shaoping ZHONG
;
Huaxiang SHEN
Author Information
1. Prenatal Diagnosis Center, the Affiliated Maternity and Child Health Care Hospital of Jiaxing College, Jiaxing, Zhejiang 314000, China. Email: hydjxs@126.com.
- Publication Type:Case Reports
- MeSH:
Eye Color;
Female;
Hearing Loss;
Humans;
Mutation;
Pedigree;
Pregnancy;
Prenatal Diagnosis;
SOXE Transcription Factors;
genetics;
Waardenburg Syndrome
- From:
Chinese Journal of Medical Genetics
2019;36(5):477-479
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a patient with syndromic hearing loss.
METHODS:Genomic DNA of the patient was extracted, for which 127 deafness-related genes were enriched with a chip. Following next generation sequencing, pathogenic loci in exonic regions were analyzed through comparison against the databases. Genotype of her fetus for the suspected site was determined by testing the amniotic fluid sample. qPCR method was applied to verify the deletion of a large fragment.
RESULTS:The proband was diagnosed with Waardenburg syndrome type 2, and had harbored a novel heterozygous deletion of the exons 3 and 4 of the SOX10 gene. Her fetus was found to carry the same deletion and presented with blue eyes and deafness after birth.
CONCLUSION:Waardenburg syndrome type 2 due to SOX10 gene deletion may feature autosomal dominant inheritance with incomplete penetrance. The deletion of exons 3 and 4 of the SOX10 gene probably underlies the disease in this family.
