Naslov
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria

Autori
Neas, K. ; Bennetts, B. ; Carpenter, K. ; White, R. ; Kirk, EP ; Wilson, M. ; Kelley, R. ; Barić, Ivo Christodoulou, J.

Izvornik
Journal of inherited metabolic disease (0141-8955) 28 (2005), 4; 525-532

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
3-methylglutaconic aciduria ; screening ; OPA3

Sažetak
We have screened 13 patients with neurological abnormalities and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which is known to be the cause of Costeff syndrome (optic atrophy, chorea and spasticity ; type III 3MGA). We aimed to explore whether mutations in the OPA3 gene are present in patients with 3MGA, without classic Costeff syndrome. Mutations (IVS1-1G>C) were identified in 2 patients with the classic phenotype of type III 3MGA, but not in the other 11 patients with differing phenotypes, associated with developmental delay, and neurological signs and symptoms as described. We identified a previously described sequence variation in the OPA3 gene (c.231T>C) in 12/13 patients. The alteration was homozygous in 8/12 and heterozygous in 4/12. This alteration was also found in 60 of 98 normal control alleles. In a single patient, a novel sequence variation in the 5’ UTR was identified, (c.-38A>G). Our studies to date suggest that the c.231T>C sequence variation is of no clinical significance. The significance of the 5’ UTR sequence variation remains open to speculation. Our study of the OPA3 gene in a series of patients with 3MGA without Costeff syndrome suggests that the genetic aetiology in these patients is yet to be identified.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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