ArticleJournal of genetics2004
Refinement of the locus for non-syndromic sensorineural deafness (DFN2).
Article in Journal of genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Generation and Auditory Phenotypic Characterization of Prps1 p.Ala87Thr Mouse Knock-In Model for Human DFNX1 Deafness.Clinical genetics · 2025Article
- Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.Pediatric research · 2015Article
- Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.International journal of audiology · 2013Review
- PRPS1 mutations: four distinct syndromes and potential treatment.American journal of human genetics · 2010Review
- Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.American journal of human genetics · 2010Article
- DXS6797 contains two STRs which can be easily haplotyped in both sexes.International journal of legal medicine · 2006Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary hearing loss. Different clinical forms of non-syndromic X-linked deafness have been described, and most of these have been mapped. Here, we report a Chinese family affected by a congenital profound sensorineural hearing loss. All phenotypes of this family are clinically compatible with non-syndromic sensorineural deafness (DFN2). A maximum two-point Lod score of 2.32 was obtained at marker DXS6797 (theta = 0.00). Recombinants define a region of 4.3 cM flanked by markers DXS6799 and GATA172D05. This region overlaps the previously reported DFN2 region by 2.0 cM.
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Registered trials
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