Analysis of DFNA5 gene variant in a Chinese pedigree affected with late-onset non-syndromic hearing loss / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 174-177, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879549
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL).@*METHODS@#Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing was carried out to verify the candidate variant in the pedigree.@*RESULTS@#The proband and his father were found to carry a c.1183+1delG p.? variant of the DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree.@*CONCLUSION@#The c.1183+1delG p.? variant of the DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Receptors, Estrogen
/
China
/
Age of Onset
/
Hearing Loss, Sensorineural
/
Mutation
Type of study:
Prognostic study
Limits:
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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