title: SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.
abstract: One of the most frequent forms of Leigh syndrome (LS), a severe neurodegenerative, genetically heterogenous disease, is associated with cytochrome c oxidase (COX) deficiency. No mutations in any of the 13 polypeptide subunits of human COX have been detected in LS patients. Recently, SURF1, a positional candidate gene for LS has been identified on chromosome 9q34. We present the identification of SURF1 mutations in a randomly chosen group of Polish patients with a classical form of LS. Sequence analysis revealed the presence of a novel 704T-->C transition (Met235Thr), and two recurrent dinucleotide deletions (758delCA, 845delCT), as well as one novel polymorphic 573C-->G transversion (Thr191Thr). 845delCT was identified in 66% of all our patients in homozygous or heterozygous form. Our study confirms the recent observations that SURF1 is consistently involved in disorders of the mitochondrial respiratory chain in patients with typical Leigh syndrome.
authors.affiliation: Children's Memorial Health Institute, Department of Medical Genetics, Warszawa, Poland. epopowska@czd.waw.pl
authors.forename: D
authors.initials: D
authors.lastname: Piekutowska-Abramczuk
authors.forename: E
authors.initials: E
authors.lastname: Popowska
authors.forename: E
authors.initials: E
authors.lastname: Pronicka
authors.forename: E
authors.initials: E
authors.lastname: Karczmarewicz
authors.forename: M
authors.initials: M
authors.lastname: Pronicki
authors.forename: T
authors.initials: T
authors.lastname: Kmieć
authors.forename: M
authors.initials: M
authors.lastname: Krajewska-Walasek