A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency

被引:26
作者
Bruno, C [1 ]
Biancheri, R [1 ]
Garavaglia, B [1 ]
Biedi, C [1 ]
Rossi, A [1 ]
Lamba, LD [1 ]
Bado, M [1 ]
Greco, M [1 ]
Zeviani, M [1 ]
Minetti, C [1 ]
机构
[1] Univ Genoa, Ist Giannina Gaslini, Dept Pediat, Neuromuscular Dis Unit, I-16147 Genoa, Italy
关键词
D O I
10.1177/088307380201700318
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report a 16-month-old boy with psychomotor regression, muscle hypotonia, peripheral neuropathy, and lactic acidosis. Brain magnetic resonance imaging showed a bilateral abnormal signal in the substantia nigra and in the subthalamic nucleus, suggestive of Leigh disease. Histochemical analysis of skeletal muscle showed decreased cytochrome-c oxidase activity. Biochemical analysis of respiratory chain enzymes in muscle homogenate and in cultured fibroblasts showed isolated cytochrome-c oxidase deficiency. Western blot analysis in fibroblasts showed the absence of Surf1 protein, Genetic analysis of the SURF1 gene revealed that the patient was compound heterozygous for a previously reported mutation at the splice-junction site of intron 3 (240 + 1G > T), and for a novel 4-bp deletion in exon 6 (531_534delAAAT). Our data further enlarge the spectrum of mutations in SURF1 gene in patients with Leigh disease and cytochrome-c oxidase deficiency, contributing to better characterization of the clinical and neuroradiologic features of this group of patients for genotype-phenotype correlations.
引用
收藏
页码:233 / 236
页数:4
相关论文
共 26 条
[11]   Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency [J].
Péquignot, MO ;
Dey, R ;
Zeviani, M ;
Tiranti, V ;
Godinot, C ;
Poyau, A ;
Sue, C ;
Di Mauro, S ;
Abitbol, M ;
Marsac, C .
HUMAN MUTATION, 2001, 17 (05) :374-381
[12]   Leigh syndrome: Clinical features and biochemical and DNA abnormalities [J].
Rahman, S ;
Blok, RB ;
Dahl, HHM ;
Danks, DM ;
Kirby, DM ;
Chow, CW ;
Christodoulou, J ;
Thorburn, DR .
ANNALS OF NEUROLOGY, 1996, 39 (03) :343-351
[13]   A SURF1 gene mutation presenting as isolated leukodystrophy [J].
Rahman, S ;
Brown, RM ;
Chong, WK ;
Wilson, CJ ;
Brown, GK .
ANNALS OF NEUROLOGY, 2001, 49 (06) :797-800
[14]   A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency [J].
Santoro, L ;
Carrozzo, R ;
Malandrini, A ;
Piemonte, F ;
Patrono, C ;
Villanova, M ;
Tessa, A ;
Palmeri, S ;
Bertini, E ;
Santorelli, FM .
NEUROMUSCULAR DISORDERS, 2000, 10 (06) :450-453
[15]  
Sciacco M, 1996, Methods Enzymol, V264, P509, DOI 10.1016/S0076-6879(96)64045-2
[16]   CONGENITAL LEIGHS DISEASE - PANENCEPHALOMYELOPATHY AND PERIPHERAL NEUROPATHY [J].
SEITZ, RJ ;
LANGES, K ;
FRENZEL, H ;
KLUITMANN, G ;
WECHSLER, W .
ACTA NEUROPATHOLOGICA, 1984, 64 (02) :167-171
[17]   G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene:: Another cause of Leigh syndrome [J].
Shtilbans, A ;
Shanske, S ;
Goodman, S ;
Sue, CM ;
Bruno, C ;
Johnson, TL ;
Lava, NS ;
Waheed, N ;
DiMauro, S .
JOURNAL OF CHILD NEUROLOGY, 2000, 15 (11) :759-761
[18]   Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions [J].
Tiranti, V ;
Galimberti, C ;
Nijtmans, L ;
Bovolenta, S ;
Perini, MP ;
Zeviani, M .
HUMAN MOLECULAR GENETICS, 1999, 8 (13) :2533-2540
[19]  
Tiranti V, 1999, ANN NEUROL, V46, P161, DOI 10.1002/1531-8249(199908)46:2<161::AID-ANA4>3.0.CO
[20]  
2-O