一个非综合征型聋家系的遗传学分析及产前诊断
Genetic Analysis and Prenatal Diagnosis of a Family with Nonsyndromic Deafness
王淑娟;李琼;梁鹏飞;李薇;王剑;陈俊;查定军
1:中国人民解放军空军军医大学第一附属医院耳鼻咽喉头颈外科
摘要【Abstract] Objective To study the clinical genetic phenotype of a hereditary deafness family, and provide ge- netic counseling and prenatal diagnosis for this family. Methods The genetic causes of patients were detected by the next-generation sequencing targeted panel to detect the pathogenic genes. The detected pathogenic mutations were confirmed by Sanger sequencing, and the prenatal molecular diagnosis of the family was performed by STR detection technology. Results Both generations of a family hare hereditary deafness with different causes.The proband was caused by the homozygous mutation of SLC26A4 gene c.919-2A>G.The deafness of two fraternal twin daughters were caused by the compound heterozygous mutations c.5062_5063 delCT/c. 7396-1G>A in MYO15A gene.Pre- natal diagnosis results of the proband's fetus during pregnancy showed that the risk of deafness was low, and suc- cessfully passed the newborn hearing screening after birth.Conclusion This study identified the genotype of this non-syndromic deafness family. In this study, it was first confirmed that the mutation of MYO15A gene c.5062_5063delCT was pathogenic variation,which expanded the spectrum of pathogenic mutation of MYO15A gene.
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