Elmira Aghazadeh

[ 1 ] - TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree

Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....