Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
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.
Riazuddin
Saima
S
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.
Khan
Shaheen N
SN
Ahmed
Zubair M
ZM
Ghosh
Manju
M
Caution
Kyle
K
Nazli
Sabiha
S
Kabra
Madhulika
M
Zafar
Ahmad U
AU
Chen
Kevin
K
Naz
Sadaf
S
Antonellis
Anthony
A
Pavan
William J
WJ
Green
Eric D
ED
Wilcox
Edward R
ER
Friedman
Penelope L
PL
Morell
Robert J
RJ
Riazuddin
Sheikh
S
Friedman
Thomas B
TB
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
D017931:DNA Primers; D008840:Microfilament Proteins; C425471:TRIOBP protein, human