Article
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
American journal of human genetics - 13 May 2011
Huebner Antje K, Gandia Marta, Frommolt Peter, Maak Anika, Wicklein Eva M, Thiele Holger, Altmüller Janine, Wagner Florian, Viñuela Antonio, Aguirre Luis A, Moreno Felipe, Maier Hannes, Rau Isabella, Giesselmann Sebastian, Nürnberg Gudrun, Gal Andreas, Nürnberg Peter, Hübner Christian A, del Castillo Ignacio, Kurth Ingo
Abstract excerpt
The fact that hereditary hearing loss is the most common sensory disorder in humans is reflected by, among other things, an extraordinary allelic and nonallelic genetic heterogeneity. X-chromosomal hearing impairment represents only a minor fraction of all cases. In a study of a Spanish family the locus for one of the X-chromosomal forms was assigned to Xp22 (DFNX4). We mapped the disease locus in the same...
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