1. Research Centre for Medical Genetics RAMS 2. Institute of Biomedical Chemistry Russian Academy of Medical Sciences (RAMS) 3. Institute of Pediatrics and Child Surgery, Ministry of Public Health of Russian Federation 4. Russian Child Clinical Hospital, Ministry of Public Health of Russian Federation
The data on biochemical and molecular-genetic diagnostics of a hereditary lisosomal storage disease, late infantile neuronal ceroid lipofuscinosis (CLN2) are presented. The disease is associated with a hereditary deficiency of pepstatin-unsensitive peptidase--tripeptidylpeptidase 1 (TPP1)--caused by mutations in the TPP1-coding gene CLN2. Among the 30 patients with clinical manifestations of CLN, six patients with a pronounced decrease in TPP1 activity were revealed; these data were interpreted as indicating the presence of CLN2 in these patients. The analysis of the isolated DNA indicated the availability of the most widespread mutation g3670 C > T(R208X) leading to the untimely termination of TPP1 synthesis. It was shown that in 5 patients this mutation is present in homozygous state and in one patient, in the heterozygous state. In this patient a hitherto unknown mutation, g3665G > A (R206H), was revealed. The pathogenetic significance of this mutation and the importance of molecular-genetic diagnosis of CLN are discussed with regard to medico-genetic consulting and prenatal diagnosis of this disease.
Boukina A.M. et al. Deficiency of tripeptidyl peptidase I inneuronal ceroid lipofuscinosis. Novel mutation // Voprosy Meditsinskoi Khimii. - 2002. - V. 48. -N 6. - P. 594-598.
Boukina A.M. et al., "Deficiency of tripeptidyl peptidase I inneuronal ceroid lipofuscinosis. Novel mutation." Voprosy Meditsinskoi Khimii 48.6 (2002): 594-598.
Boukina, A. M., Tsvetkova, I. V., Semyachkina, A. N., Ilyina, E. S. (2002). Deficiency of tripeptidyl peptidase I inneuronal ceroid lipofuscinosis. Novel mutation. Voprosy Meditsinskoi Khimii, 48(6), 594-598.
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