ArticleBiochemical genetics2013
The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.
Article in Biochemical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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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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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
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- Blood leukocytes as a non-invasive diagnostic tool for thyroid nodules: a prospective cohort study.BMC medicine · 2024Article
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- GRXCR2 Regulates Taperin Localization Critical for Stereocilia Morphology and Hearing.Cell reports · 2018Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
The DFNB79 locus harbors TPRN mutations in which have been reported in a few families with deafness. Four frameshift mutations in TPRN have been described to cause severe or severe-to-profound hearing loss in Moroccan and Pakistani families, and a single frameshift mutation was associated with progressive hearing loss in deaf individuals in a Dutch family. We identified a Pakistani family in which the affected individuals were homozygous for a pathogenic mutation, c.42_52del11, in TPRN (p.G15Afs150X). In contrast to the previously reported individuals affected by the same mutation, hearing loss is likely to be progressive in this family. Thus the same mutation of TPRN can be associated with different thresholds of hearing as well as differences in the stability of the phenotype.
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Registered trials
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