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Article

The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.

Biochemical genetics - 1 Jun 2013

Bashir Rasheeda, Imtiaz Ayesha, Fatima Amara, Alam Afzaal, Naz Sadaf

Abstract excerpt

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...

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Source

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Identifiers

PMID: 23340767
DOI: 10.1007/s10528-013-9568-y
PMCID: PMC3654082

Genes

TPRN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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