IngentaConnect Haplogroup analysis supports a pathogenic role for the 7510TC mut...

Authors: Labay¹; Garrido; Madeo¹; Nance²; Friedman^{3, 4}; del Castillo,; Griffith

Source: Clinical Genetics, Volume 73, Number 1, January 2008 , pp. 50-54(5)

Abstract:

Labay V, Garrido G, Madeo AC, Nance WE, Friedman TB, Friedman PL, del Castillo I, Griffith AJ. Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA^Ser(UCN) in sensorineural hearing loss.

Clin Genet 2007. © Blackwell Munksgaard, 2007

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.

Keywords: deafness; genetic; haplogroup; hearing; matrilineal; mitochondrial

Document Type: Research article

DOI: 10.1111/j.1399-0004.2007.00925.x

Affiliations: 1: Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA 2: Department of Human Genetics, Virginia Commonwealth University, Richmond, VA, USA 3: Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA 4: Internal Medicine Consult Service, Hatfield Clinical Research Center, National Institutes of Health, Bethesda, MD, USA

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Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNASer(UCN) in sensorineural hearing loss

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA^Ser(UCN) in sensorineural hearing loss