2. Academic Validation
  3. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

  • Am J Hum Genet. 2006 Jan;78(1):137-43. doi: 10.1086/499164.
Saima Riazuddin 1,  Shaheen N Khan,  Zubair M Ahmed,  Manju Ghosh,  Kyle Caution,  Sabiha Nazli,  Madhulika Kabra,  Ahmad U Zafar,  Kevin Chen,  Sadaf Naz,  Anthony Antonellis,  William J Pavan,  Eric D Green,  Edward R Wilcox,  Penelope L Friedman,  Robert J Morell,  Sheikh Riazuddin,  Thomas B Friedman
Affiliations

Affiliation

  • 1 Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health (NIH), Rockville, MD 20850, USA.
PMID: 16385457 DOI: 10.1086/499164
Abstract

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. The linkage interval for the deafness segregating in these families includes DFNB28. Genetic heterogeneity at this locus is suggested by three additional families that show significant evidence of linkage of deafness to markers on chromosome 22q13 but that apparently have no mutations in the TRIOBP gene.

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