title: [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
abstract: 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.
authors.affiliation: Research Centre for Medical Genetics RAMS, 117478, Moscow Moscvorechij St. 1. sigorag@orc.ru
authors.forename: A M
authors.initials: AM
authors.lastname: Bukina
authors.forename: I V
authors.initials: IV
authors.lastname: Tsvetkova
authors.forename: A N
authors.initials: AN
authors.lastname: Semiachkina
authors.forename: E S
authors.initials: ES
authors.lastname: Il'ina
mesh_terms: D000595:Amino Acid Sequence; D000626:Aminopeptidases; D002648:Child; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D010450:Endopeptidases / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics*; D057057:Serine Proteases; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D000091346:Tripeptidyl-Peptidase 1; D010450:Endopeptidases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human
vernacular_title: Nedostatochnost' tripeptidil peptidazy 1 pri neĭronal'nom tseroidnom lipofuktsinoze. Novaia mutatsiia.