BACKGROUND: Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. METHODS: We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynthesis of heme A. RESULTS: Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date. In contrast, our patient had a slowly progressive course with no heart involvement. COX deficiency was mild in muscle and a normal amount of fully assembled COX was present in cultured fibroblasts. CONCLUSIONS: The clinical and biochemical phenotypes in COX15 defects are more heterogeneous than in other conditions associated with COX deficiency, such as mutations in SURF1.
BACKGROUND: Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. METHODS: We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynthesis of heme A. RESULTS: Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date. In contrast, our patient had a slowly progressive course with no heart involvement. COX deficiency was mild in muscle and a normal amount of fully assembled COX was present in cultured fibroblasts. CONCLUSIONS: The clinical and biochemical phenotypes in COX15 defects are more heterogeneous than in other conditions associated with COX deficiency, such as mutations in SURF1.
Authors: Sze Chern Lim; Katherine R Smith; David A Stroud; Alison G Compton; Elena J Tucker; Ayan Dasvarma; Luke C Gandolfo; Justine E Marum; Matthew McKenzie; Heidi L Peters; David Mowat; Peter G Procopis; Bridget Wilcken; John Christodoulou; Garry K Brown; Michael T Ryan; Melanie Bahlo; David R Thorburn Journal: Am J Hum Genet Date: 2014-01-23 Impact factor: 11.025
Authors: Samantha Swenson; Andrew Cannon; Nicholas J Harris; Nicholas G Taylor; Jennifer L Fox; Oleh Khalimonchuk Journal: J Biol Chem Date: 2016-03-03 Impact factor: 5.157
Authors: Richard H Haas; Sumit Parikh; Marni J Falk; Russell P Saneto; Nicole I Wolf; Niklas Darin; Lee-Jun Wong; Bruce H Cohen; Robert K Naviaux Journal: Mol Genet Metab Date: 2008-02-01 Impact factor: 4.797