title: Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
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.
authors.affiliation: 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.
authors.forename: Saima
authors.initials: S
authors.lastname: Riazuddin
authors.forename: Shaheen N
authors.initials: SN
authors.lastname: Khan
authors.forename: Zubair M
authors.initials: ZM
authors.lastname: Ahmed
authors.forename: Manju
authors.initials: M
authors.lastname: Ghosh
authors.forename: Kyle
authors.initials: K
authors.lastname: Caution
authors.forename: Sabiha
authors.initials: S
authors.lastname: Nazli
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Ahmad U
authors.initials: AU
authors.lastname: Zafar
authors.forename: Kevin
authors.initials: K
authors.lastname: Chen
authors.forename: Sadaf
authors.initials: S
authors.lastname: Naz
authors.forename: Anthony
authors.initials: A
authors.lastname: Antonellis
authors.forename: William J
authors.initials: WJ
authors.lastname: Pavan
authors.forename: Eric D
authors.initials: ED
authors.lastname: Green
authors.forename: Edward R
authors.initials: ER
authors.lastname: Wilcox
authors.forename: Penelope L
authors.initials: PL
authors.lastname: Friedman
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Morell
authors.forename: Sheikh
authors.initials: S
authors.lastname: Riazuddin
authors.forename: Thomas B
authors.initials: TB
authors.lastname: Friedman
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D017931:DNA Primers; D003638:Deafness / Q000235:genetics*; D040461:Gene Components; D005787:Gene Frequency; D005808:Genes, Recessive; D006801:Humans; D007194:India; D051379:Mice; D008840:Microfilament Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D008840:Microfilament Proteins; C425471:TRIOBP protein, human