Hair cells of the cochlea are mechanosensors for the perception of sound. Mutations in the LRTOMT gene, which encodes a protein with homology to the catecholamine methyltransferase COMT that is linked to schizophrenia, cause deafness. Here, we show that Tomt/Comt2, the murine ortholog of LRTOMT, has an unexpected function in the regulation of mechanotransduction by hair cells. The role of mTOMT...

Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic or environmental causes or both. The genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (ARNSHL). The aim of this study was to determine the contribution of the LRTOMT gene mutations in causing ARNSHL...

Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic or environmental causes or both. The genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (ARNSHL). The aim of this study was to determine the contribution of the LRTOMT gene mutations in causing ARNSHL...

hearing loss (hl) is the most frequent sensory defect affecting 1 in 1000 neonates. this can occur due to genetic or environmental causes or both. the genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (arnshl). the aim of this study was to determine the contribution of the lrtomt gene mutations in causing arnshl...

A 1 bp Deletion in the Dual Reading Frame Deafness Gene LRTOMT Causes a Frameshift From the First Into the Second Reading Frame Maarten Vanwesemael, Isabelle Schrauwen, Ruben Ceuppens, Fatemeh Alasti, Ellen Jorssen, Effat Farrokhi, Morteza Hashemzadeh Chaleshtori, and Guy Van Camp* Department of Medical Genetics, University of Antwerp, 2610, Wilrijk, Belgium Cellular and Molecular Research Cent...

Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous ...