ArticleHuman genetics2005
DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 22 citations in OpenAlex.
- Regionalized Protein Localization Domains in the Zebrafish Hair Cell Kinocilium.Journal of developmental biology · 2023Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.European journal of human genetics : EJHG · 2016Article
- Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2013Article
- Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.Nature genetics · 2012Article
- Tricellulin forms homomeric and heteromeric tight junctional complexes.Cellular and molecular life sciences : CMLS · 2010Article
- USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.Clinical genetics · 2009Article
- Identification of candidate regions for a novel Usher syndrome type II locus.Molecular vision · 2008Article
- Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.Journal of medical genetics · 2006Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Nonsyndromic deafness locus (DFNB48) segregating as an autosomal recessive trait has been mapped to the long arm of chromosome 15 in bands q23-q25.1 in five large Pakistani families. The deafness phenotype in one of these five families (PKDF245) is linked to D15S1005 with a lod score of 8.6 at theta=0, and there is a critical linkage interval of approximately 7 cM on the Marshfield human genetic map, bounded by microsatellite markers D15S216 (70.73 cM) and D15S1041 (77.69 cM). MYO9A, NR2E3, BBS4, and TMC3 are among the candidate genes in the DFNB48 region. The identification of another novel nonsyndromic recessive deafness locus demonstrates the high degree of locus heterogeneity for hearing impairment, particularly in the Pakistani population.
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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.