ArticleHuman genetics2007
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 33 citations in OpenAlex.
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- Regionalized Protein Localization Domains in the Zebrafish Hair Cell Kinocilium.Journal of developmental biology · 2023Article
- A review of the mechanisms underlying the role of theFrontiers in synaptic neuroscience · 2022Review
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Low incidence ofJournal of genetics · 2020Article
- Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.Molecular genetics & genomic medicine · 2015Article
- A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.Journal of human genetics · 2014Article
- The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.Biochemical genetics · 2013Article
- Autosomal recessive nonsyndromic deafness genes: a review.Frontiers in bioscience (Landmark edition) · 2012Review
- Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.Human genetics · 2011Article
- A systematic search for endoplasmic reticulum (ER) membrane-associated RING finger proteins identifies Nixin/ZNRF4 as a regulator of calnexin stability and ER homeostasis.The Journal of biological chemistry · 2011Article
- Identifying components of the hair-cell interactome involved in cochlear amplification.BMC genomics · 2009Article
- A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.American journal of medical genetics. Part A · 2009Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
We ascertained three consanguineous Pakistani families (PKDF291, PKDF335 and PKDF793) segregating nonsyndromic recessive hearing loss. The hearing loss segregating in PKDF335 and PKDF793 is moderate to severe, whereas it is profound in PKDF291. The maximum two-point LOD scores are 3.01 (D19S1034), 3.85 (D19S894) and 3.71 (D19S894) for PKDF291, PKDF335 and PKDF793, respectively. Haplotype analyses of the three families define a 1.16 Mb region of overlap of the homozygous linkage intervals bounded by markers D19S216 (20.01 cM) and D19S1034 (20.75 cM). These results define a novel locus, DFNB72, on chromosome 19p13.3. There are at least 22 genes in the 1.16 Mb interval, including PTPRS, ZNRF4 and CAPS. We identified no pathogenic variants in the exons and flanking intronic sequences of these three genes in affected members of the DFNB72 families. DFNB72 is telomeric to DFNB68, the only other known deafness locus with statistically significant support for linkage to chromosome 19p.
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