Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss |
| |
| Authors: | Labay V Garrido G Madeo A C Nance W E Friedman T B Friedman P L Del Castillo I Griffith A J |
| |
| Affiliation: | Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA;, Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, Spain;, Centre for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain;, Department of Human Genetics, Virginia Commonwealth University, Richmond, VA, USA;, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA;, and Internal Medicine Consult Service, Hatfield Clinical Research Center, National Institutes of Health, Bethesda, MD, USA |
| |
| 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 tRNASer(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. |
| |
| Keywords: | deafness genetic haplogroup hearing matrilineal mitochondrial |
| 本文献已被 PubMed 等数据库收录！ |
|
