Approximately 14.5 million Pakistani individuals have a hearing loss and half of these cases
may be due to genetic causes. Though significant progress has been made in uncovering …

Background: Mutations in TMPRSS3 are an important cause of autosomal recessive non-
syndromic hearing loss. The hearing loss associated with mutations in TMPRSS3 is …

Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to
the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive …

Objective: To identify and report novel variants in the TMPRSS3 gene and their clinical
manifestations related to hearing loss as well as intervention outcomes. This information will …

Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known
to cause hereditary hearing loss. To study the contribution of these genes to autosomal …

Objectives: To clarify the frequency of TMPRSS3 mutations in the hearing loss population,
genetic analysis was performed, and detailed clinical characteristics were collected. Optical …

Hereditary hearing loss is characterized by a high degree of genetic heterogeneity.
Mutations in the TMPRSS3 (transmembrane protease, serine 3) gene cause prelingual …

Abstract The TMPRSS3 gene (DFNB8/10), which encodes a transmembrane serine
protease, is a common hearing loss gene in several populations. Accurate functions of …

Sensorineural hearing loss (SNHL) is one of the major leading causes of hearing
impairment, and is typically characterized by the degeneration of spiral ganglion neurons …

Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes
and 170 loci associated with its pathogenesis. The spectrum and frequency of causal …