title: The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.
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.
authors: School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore 54590, Pakistan.
authors: Rasheeda
authors: R
authors: Bashir
authors: Ayesha
authors: A
authors: Imtiaz
authors: Amara
authors: A
authors: Fatima
authors: Afzaal
authors: A
authors: Alam
authors: Sadaf
authors: S
authors: Naz
mesh_terms: D001483:Base Sequence; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005190:Family; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
chemical_list: D011506:Proteins; C548551:TPRN protein, human