PT  - JOURNAL ARTICLE
AU  - Sue, C.M.
AU  - Tanji, K.
AU  - Hadjigeorgiou, G.
AU  - Andreu, A.L.
AU  - Nishino, I.
AU  - Krishna, S.
AU  - Bruno, C.
AU  - Hirano, M.
AU  - Shanske, S.
AU  - Bonilla, E.
AU  - Fischel-Ghodsian, N.
AU  - DiMauro, S.
AU  - Friedman, R.
TI  - Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA<sup>Ser(UCN)</sup> gene
AID  - 10.1212/WNL.52.9.1905
DP  - 1999 Jun 01
TA  - Neurology
PG  - 1905--1905
VI  - 52
IP  - 9
4099  - http://n.neurology.org/content/52/9/1905.short
4100  - http://n.neurology.org/content/52/9/1905.full
SO  - Neurology1999 Jun 01; 52
AB  - Article abstract Thirty-six of 43 maternally related members of a large African American family experienced hearing loss. A muscle biopsy specimen from the proband showed cytochrome c oxidase (COX)-deficient fibers but no ragged-red fibers; biochemical analysis showed marked reduction of COX activity. A novel T7511C point mutation in the tRNASer(UCN) gene was present in almost homoplasmic levels (>95%) in the blood of 18 of 20 family members, and was also found in lower abundance in the other two. Single-fiber PCR showed that the mutational load was greater in COX-deficient muscle fibers. The tRNASer(UCN) gene may be a “hot spot” for mutations associated with maternally transmitted hearing loss.