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Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA Ser(UCN) in sensorineural hearing loss
Author(s) -
Labay V,
Garrido G,
Madeo AC,
Nance WE,
Friedman TB,
Friedman PL,
Del Castillo I,
Griffith AJ
Publication year - 2008
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00925.x
Subject(s) - haplogroup , mitochondrial dna , genetics , penetrance , biology , human mitochondrial dna haplogroup , sensorineural hearing loss , transfer rna , mutation , gene , hearing loss , haplotype , medicine , phenotype , audiology , genotype , rna
We ascertained a large North American family, LMG309, with matrilineal transmission of non‐syndromic, progressive sensorineural hearing loss (SNHL). There was no history of aminoglycoside exposure, and penetrance was complete. We sequenced the entire mitochondrial genome and identified the previously reported 7510T>C transition in the tRNA Ser(UCN) gene. The 7510T>C was homoplasmic in all affected members. The LMG309 mitochondrial sequence belongs to an unnamed subgroup of mitochondrial haplogroup H. We demonstrate that the previously reported Spanish family S258 carries 7510T>C on a different mitochondrial sub‐haplogroup, H1. We did not detect 7510T>C among 79 Caucasian haplogroup H control samples, including 11 from sub‐haplogroup H1 and one from the same sub‐haplogroup as LMG309. Our results provide strong genetic evidence that 7510T>C is a pathogenic mutation that causes non‐syndromic SNHL.