Genetics and Prenatal Diagnosis Analysis of a Couple with Autosomal Recessive Deafness
10.3969/j.issn.1006-7299.2024.04.002
- VernacularTitle:一对常染色体隐性遗传性聋夫妻的遗传学及产前诊断分析
- Author:
Xiangke LIU
1
;
Zuyao LU
;
Lina LIU
;
Shengju HAO
;
Ling HUI
;
Chuan ZHANG
;
Fuping LI
Author Information
1. 甘肃省妇幼保健院(兰州 730050)
- Keywords:
MYO15A;
LOXHD1;
CDH23;
PCDH15;
Digenic mutation
- From:
Journal of Audiology and Speech Pathology
2024;32(4):297-301
- CountryChina
- Language:Chinese
-
Abstract:
Objective To perform genetic analysis in a family line of a pregnant couple with autosomal reces-sive non-syndromic deafness in order to identify its possible genetic etiology and provide prenatal diagnosis.Methods Whole-exome sequencing(WES)was used to analyze the genes of the proband,and Sanger sequencing was used to verify the suspected pathogenic loci.Prenatal genetic diagnosis was performed after amniotic fluid collection at 18 weeks of pregnancy.Results Autosomal recessive deafness type 3 related gene MYO15A c.10419_10423delCAGCT/c.10294_10308delCCTTGCATCCTTGCC compound heterozygous variant was found in the wife.A compound heterozygous variant of autosomal recessive deafness type 77-related gene LOXHD1:c.6388C＞T/ex-on 33-38 del.Maternal MYO15A c.10294_10308del CCTTGCATCCTTGCC heterozygous variant were detected in the husband and paternal LOXHD1 exon 33-38 del heterozygous variant were detected in the fetus.At the same time,the paternal CDH23 c.6693delT heterozygous mutation and the maternal PCDH15 c.5048_5051dupAGAA heterozygous mutation were detected in the fetus.These two heterozygous mutations lead to the possibility of the fe-tus suffering from ID/F Usher syndrome.Conclusion The deafness of the couple is caused by two different deaf gene mutations,and the probability of the fetus having the same deafness as the couple is very low.However,the fetus has a high possibility of having deafness caused by two gene mutations.Therefore,deafness caused by two gene mutations should be paid attention to in the prenatal diagnosis of families with both deaf parents.
