Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.

doi:10.1038/ng.245

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Article

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.

Nature genetics - 1 Nov 2008

Ahmed Zubair M, Masmoudi Saber, Kalay Ersan, Belyantseva Inna A, Mosrati Mohamed Ali, Collin Rob W J, Riazuddin Saima, Hmani-Aifa Mounira, Venselaar Hanka, Kawar Mayya N, Tlili Abdelaziz, van der Zwaag Bert, Khan Shahid Y, Ayadi Leila, Riazuddin S Amer, Morell Robert J, Griffith Andrew J, Charfedine Ilhem, Caylan Refik, Oostrik Jaap, Karaguzel Ahmet, Ghorbel Abdelmonem, Riazuddin Sheikh, Friedman Thomas B, Ayadi Hammadi, Kremer Hannie

Abstract excerpt

Many proteins necessary for sound transduction have been identified through positional cloning of genes that cause deafness. We report here that mutations of LRTOMT are associated with profound nonsyndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4. LRTOMT has two alternative reading frames and encodes two different proteins, LRTOMT1 and LRTOMT2, detected by protein blot analyses. LRTOMT2...

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PMID: 18953341
DOI: 10.1038/ng.245
PMCID: PMC3404732

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LRTOMT

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