ArticleHuman genetics2011
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 58 citations in OpenAlex.
- Gipc3 Mutation Might Cause Sensorineural Hearing Loss by Inhibiting Mitophagy in Inner Ear Hair Cells.Molecular neurobiology · 2025Article
- CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study.Human genomics · 2025Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Diversity matters - extending sound intensity coding by inner hair cells via heterogeneous synapses.The EMBO journal · 2023Review
- Regionalized Protein Localization Domains in the Zebrafish Hair Cell Kinocilium.Journal of developmental biology · 2023Article
- GIPC3 couples to MYO6 and PDZ domain proteins, and shapes the hair cell apical region.Journal of cell science · 2023Article
- GIPC3 couples to MYO6 and PDZ domain proteins and shapes the hair cell apical region.bioRxiv : the preprint server for biology · 2023Article
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.Italian journal of pediatrics · 2022Article
- A review of the mechanisms underlying the role of theFrontiers in synaptic neuroscience · 2022Review
- Genetic Variant c.245A>G (p.Asn82Ser) inGenes · 2021Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Low incidence ofJournal of genetics · 2020Article
- Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.Human mutation · 2019Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- Voltage-Gated Calcium Channels: Key Players in Sensory Coding in the Retina and the Inner Ear.Physiological reviews · 2018Review
- Survival of BRCA2-Deficient Cells Is Promoted byGenetics · 2017Article
- Structure analyses reveal a regulated oligomerization mechanism of the PlexinD1/GIPC/myosin VI complex.eLife · 2017Article
- Hair cells use active zones with different voltage dependence of Ca2+ influx to decompose sounds into complementary neural codes.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.Human genetics · 2016Article
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Authors and funding
17 authors at 9 institutions in 3 countries.
Funding
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.