Article
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
American journal of human genetics - 1 Jan 2006
Riazuddin Saima, Khan Shaheen N, Ahmed Zubair M, Ghosh Manju, Caution Kyle, Nazli Sabiha, Kabra Madhulika, Zafar Ahmad U, Chen Kevin, Naz Sadaf, Antonellis Anthony, Pavan William J, Green Eric D, Wilcox Edward R, Friedman Penelope L, Morell Robert J, Riazuddin Sheikh, Friedman Thomas B
Abstract excerpt
In seven families, six different mutant alleles of TRIOBP on chromosome 22q13 cosegregate with autosomal recessive nonsyndromic deafness. These alleles include four nonsense (Q297X, R788X, R1068X, and R1117X) and two frameshift (D1069fsX1082 and R1078fsX1083) mutations, all located in exon 6 of TRIOBP. There are several alternative splice isoforms of this gene, the longest of which, TRIOBP-6, comprises 23 exons....
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