Article
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
Human mutation - 1 Apr 2008
Riazuddin Saima, Nazli Sabiha, Ahmed Zubair M, Yang Yi, Zulfiqar Fareeha, Shaikh Rehan S, Zafar Ahmed U, Khan Shaheen N, Sabar Farooq, Javid Fouzia T, Wilcox Edward R, Tsilou Ekaterini, Boger Erich T, Sellers James R, Belyantseva Inna A, Riazuddin Sheikh, Friedman Thomas B
Abstract excerpt
Recessive mutations of MYO7A, encoding unconventional myosin VIIA, can cause either a deaf-blindness syndrome (type 1 Usher syndrome; USH1B) or nonsyndromic deafness (DFNB2). In our study, deafness segregating as a recessive trait in 24 consanguineous families showed linkage to markers for the DFNB2/USH1B locus on chromosome 11q13.5. A total of 23 of these families segregate USH1 due to 17 homozygous mutant MYO7A...
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