PAX3 gene mutation analysis for two Waardenburg syndrome type Ⅰ families and their prenatal diagnosis
10.3760/cma.j.issn.1673-0860.2016.12.004
- VernacularTitle:2个Ⅰ型Waardenburg综合征家系的基因诊断及产前诊断
- Author:
Ying BAI
1
;
Ning LIU
;
Xiangdong KONG
;
Jie YAN
;
Zhaobing QIN
;
Bin WANG
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心
- Keywords:
Waardenburg's syndrome;
Heating loss,sensorineural;
PAX3 transcription factor;
Mutation;
Prenatal diagnosis
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2016;51(12):896-901
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the mutations ofPAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus.Methods PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) for detecting pathogenic mutation of the probands of the two pedigrees.The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals.Prenatal genetic diagnosis for the high-risk fetus was performed by amniotic fluid cell after genotyping.Results A heterozygousPAX3 gene gross deletion (E7 deletion) was identified in all patients from WS1-01 family,and not found in 20 healthy individuals.Prenatal diagnosis in WS1-01 family indicated that the fetus was normal.Molecular studies identified a novel deletion mutation c.1385_1386delCT within thePAX3 gene in all affected WS1-02 family members,but in none of the unaffected relatives and 200 healthy individuals.Conclusions PAX3 gene mutation is etiological for two WS1 families.Sanger sequencing plus MLPA is effective and accurate for making gene diagnosis and prenatal diagnosis.
