Abstract |
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.
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Authors | V Labay, G Garrido, A C Madeo, W E Nance, T B Friedman, P L Friedman, I Del Castillo, A J Griffith |
Journal | Clinical genetics
(Clin Genet)
Vol. 73
Issue 1
Pg. 50-4
(Jan 2008)
ISSN: 1399-0004 [Electronic] Denmark |
PMID | 18028453
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Mitochondrial
- RNA, Transfer, Ser
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Topics |
- DNA, Mitochondrial
(genetics)
- Family Health
- Genome, Mitochondrial
- Haplotypes
- Hearing Loss, Sensorineural
(genetics)
- North America
- Pedigree
- Point Mutation
- RNA, Transfer, Ser
(genetics)
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