title: [PAX3gene mutation analysis for two Waardenburg syndrome type Ⅰ families and their prenatal diagnosis].
abstract: Objective:To analyze the mutations ofPAX3gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus.Methods:PAX3gene 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 heterozygousPAX3gene 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 thePAX3gene in all affected WS1-02 family members, but in none of the unaffected relatives and 200 healthy individuals.Conclusions:PAX3gene mutation is etiological for two WS1 families. Sanger sequencing plus MLPA is effective and accurate for making gene diagnosis and prenatal diagnosis.
authors.affiliation: Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Bai
authors.affiliation: Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: N
authors.initials: N
authors.lastname: Liu
authors.affiliation: Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: X D
authors.initials: XD
authors.lastname: Kong
authors.affiliation: Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: J
authors.initials: J
authors.lastname: Yan
authors.affiliation: Department of Otology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: Z B
authors.initials: ZB
authors.lastname: Qin
authors.affiliation: Department of Otology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: B
authors.initials: B
authors.lastname: Wang
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D005865:Gestational Age; D006579:Heterozygote; D006801:Humans; D008297:Male; D000072041:PAX3 Transcription Factor / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014849:Waardenburg Syndrome / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D000072041:PAX3 Transcription Factor