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anti-Human TPRN Antibodies:
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A Pakistani family in which the affected individuals were homozygous for a pathogenic mutation, c.42_52del11, in TPRN.
genome-wide homozygosity mapping in a Moroccan family; mapped autosomal-recessive nonsyndromic hearing loss to DFNB79 locus on chromosome 9q34; identified a causative homozygous 11 bp deletion, c.42_52del, in TPRN gene in affected individuals
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
taperin plays an important role in maintenance of hair cell stereocilia.
This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness.