Article
Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Molecular vision - 30 Sept 2010
Ben Rebeh Imen, Morinière Madeleine, Ayadi Leila, Benzina Zeineb, Charfedine Ilhem, Feki Jamel, Ayadi Hammadi, Ghorbel Abdelmonem, Baklouti Faouzi, Masmoudi Saber
Abstract excerpt
PURPOSE: Recessive mutations of the myosin VIIA (MYO7A) gene are reported to be responsible for both a deaf-blindness syndrome (Usher type 1B [USH1B] and atypical Usher syndrome) and nonsyndromic hearing loss (HL; Deafness, Neurosensory, Autosomal Recessive 2 [DFNB2]). The existence of DFNB2 is controversial, and often there is no relationship between the type and location of the MYO7A mutations corresponding to...
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