Analysis of the Genetic Characteristics of a Chinese Family With Otosclerosis.

Yongli ZhangQi TangRuoyan XueXiaohui ZhuHua YangZhiqiang Gao

Published in: Ear, nose, & throat journal (2020)

The pattern of otosclerosis in this family is consistent with autosomal dominant inheritance, and the SP1 gene, harboring the c.2209A > G (p.T737A) mutation in exon 6, may be the causative gene of otosclerosis in this family.

Keyphrases

copy number
genome wide
mitochondrial dna
genome wide identification
dna methylation
gene expression
transcription factor