Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency

被引:71
作者
Péquignot, MO
Dey, R
Zeviani, M
Tiranti, V
Godinot, C
Poyau, A
Sue, C
Di Mauro, S
Abitbol, M
Marsac, C
机构
[1] Fac Necker, Lab CERTO, Paris, France
[2] CNRS, UPR 1524, Meudon, France
[3] Inst Nazl Neurol Carlo Besta, Milan, Italy
[4] Univ Lyon 1, CNRS, UMR 5534, Villeurbanne, France
[5] Columbia Univ, Dept Neurol, New York, NY USA
关键词
cytochrome oxidase deficiency; COX; SURF1; Leigh syndrome; LS;
D O I
10.1002/humu.1112.abs
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Cytochrome c oxidase (COX) deficiency is one of the major causes of Leigh Syndrome (LS), a fatal encephalopathy of infancy or childhood, characterized by symmetrical lesions in the basal ganglia and brainstem. Mutations in the nuclear genes encoding COX subunits have not been found in patients with LS and COS deficiency but mutations have been identified in SURF1. SURF1 encodes a factor involved in COX biogenesis. To date, 30 different mutations have been reported in 40 unrelated patients. We aim to provide an overview of all known mutations in SURF1, and to propose a common nomenclature. Twelve of the mutations were insertion/deletion mutations in exons 1, 4, 6, 8, and 9; 10 were missense/nonsense mutations in exons 2, 4, 5, 7, and 8; and eight were detected at splicing sites in introns 3 to 7. The most frequent mutation was 312_321del 311_312insAT which was found in 12 patients out of 40. Twenty mutations have been described only once. We also list all polymorphisms discovered to date. Hum Mutat 17:374-381, 2001. (C) 2001 Wiley Liss, Inc.
引用
收藏
页码:374 / 381
页数:8
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