[Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].
Syndrome Leigh (SL) or subacute necrotizing encephalomyelopathy - is a rare hereditary genetically heterogeneous disease from the group of mitochondrial encephalomyopathies. Twenty-seven children with SL were examined using clinical, laboratory (measuring lactate levels), MRI and molecular-genetic (polymerase chain reaction genotyping of 9 exons of the SURF1 gene) studies. The mean age of manifestation was 11,6 months. The main manifestations of SL were: delay of psychomotor development, diffuse muscle hypertonic, cerebellar syndrome, ophthalmoparesis, hypertrichosis. The disease had a progressive course with the loss of acquired skills. The blood lactate concentration was increased on average up to 3,1 mM/ml (from 1,9 to 5,1 mM/ml) compared to normal values (1,8 mM/ml). Brain MRI revealed the subcortical and cortical atrophy (80% of cases), symmetrical distinctly delineated hyperintense lesions on T2-weighted images (demyelization) in the basal ganglia and the brain stem (50%), as well as in the cerebellum (25%). Genotyping identified 7 different mutations. The most frequent (64,8%) was the deletion of 2 nucleotides (845delCT) in exon 8 that was in line with early data of Polish researchers thus indicating the Slavic origin of this mutation. Other mutations (574-575insCTGT, 311-321del10insAT and IVS8-1G>) were also frequent in the Russian population.
Tsygankova
P G
PG
Mikhaĭlova
S V
SV
Zakharova
E Iu
EIu
Pichkur
N A
NA
Il'ina
E S
ES
Nikolaeva
E A
EA
Rudenskaia
G E
GE
Dadali
E L
EL
Kolpakchi
L M
LM
Fedoniuk
I D
ID
Matiushchenko
G N
GN
D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D012426:Russia / Q000453:epidemiology; D014455:Ukraine / Q000453:epidemiology
D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C092928:Surf-1 protein; D004247:DNA