Unknown

Dataset Information

0

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.

SUBMITTER: Riazuddin S 

PROVIDER: S-EPMC1380211 | biostudies-literature | 2006 Jan

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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.  ...[more]

Similar Datasets

Unknown Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.
| S-EPMC1380212 | biostudies-literature
Unknown Autosomal recessive nonsyndromic deafness genes: a review.
| S-EPMC3683827 | biostudies-literature
Unknown Mutations of MYO6 are associated with recessive deafness, DFNB37.
| S-EPMC1180285 | biostudies-literature
Unknown Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
| S-EPMC3882911 | biostudies-literature
Unknown A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
| S-EPMC2268028 | biostudies-literature
Unknown Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
| S-EPMC4641619 | biostudies-literature
Unknown Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
| S-EPMC1234923 | biostudies-literature
Unknown Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
| S-EPMC1287533 | biostudies-literature
Unknown Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
| S-EPMC2790571 | biostudies-literature
Unknown Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
| S-EPMC1735855 | biostudies-other