Unknown

Dataset Information

0

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

ABSTRACT: A missense mutation of Gipc3 was previously reported to cause age-related hearing loss in mice. Point mutations of human GIPC3 were found in two small families, but association with hearing loss was not statistically significant. Here, we describe one frameshift and six missense mutations in GIPC3 cosegregating with DFNB72 hearing loss in six large families that support statistically significant evidence for genetic linkage. However, GIPC3 is not the only nonsyndromic hearing impairment gene in this region; no GIPC3 mutations were found in a family cosegregating hearing loss with markers of chromosome 19p. Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes. This closely linked but distinct nonsyndromic hearing loss locus was designated DFNB81.

SUBMITTER: Rehman AU 

PROVIDER: S-EPMC3303183 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

A missense mutation of Gipc3 was previously reported to cause age-related hearing loss in mice. Point mutations of human GIPC3 were found in two small families, but association with hearing loss was not statistically significant. Here, we describe one frameshift and six missense mutations in GIPC3 cosegregating with DFNB72 hearing loss in six large families that support statistically significant evidence for genetic linkage. However, GIPC3 is not the only nonsyndromic hearing impairment gene in  ...[more]

Similar Datasets

Unknown Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
| S-EPMC7572817 | biostudies-literature
Unknown A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.
| S-EPMC1715982 | biostudies-literature
Unknown A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.
| S-EPMC1378084 | biostudies-other
Unknown Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
| S-EPMC2833376 | biostudies-literature
Unknown Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.
| S-EPMC8226456 | biostudies-literature
Unknown Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
| S-EPMC3105340 | biostudies-literature
Unknown Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
| S-EPMC2681005 | biostudies-literature
Unknown MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.
| S-EPMC7391749 | biostudies-literature
Unknown A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.
| S-EPMC2909096 | biostudies-literature
Unknown Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.
| S-EPMC3727941 | biostudies-literature