First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis
Late‐infantile neuronal ceroid lipofuscinosis (LINCL) is a progressive neurodegenerative disorder caused by the deficiency of lysosomal tripeptidyl peptidase I (TPP‐I) encoded by the CLN2 gene. We report the first case of early prenatal diagnosis of LINCL by combined enzyme and mutation analysis. TP...
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| Veröffentlicht in: | Prenatal diagnosis 2001-02, Vol.21 (2), p.99-101 |
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| creator | Kleijer, W. J. van Diggelen, O. P. Keulemans, J. L. M. Losekoot, M. Garritsen, V. H. Stroink, H. Majoor-Krakauer, D. Franken, P. F. Eurlings, M. C. M. Taschner, P. E. M. Los, F. J. Galjaard, R. J. H. |
| description | Late‐infantile neuronal ceroid lipofuscinosis (LINCL) is a progressive neurodegenerative disorder caused by the deficiency of lysosomal tripeptidyl peptidase I (TPP‐I) encoded by the CLN2 gene. We report the first case of early prenatal diagnosis of LINCL by combined enzyme and mutation analysis. TPP‐I activity in chorionic villi (CV) was less than 2% of the mean normal control level and g.1946A>G and g.3670C>T mutations were demonstrated, as in the two previously affected children. After termination of pregnancy, TPP‐I deficiency was confirmed in cultured CV cells and in the fetal skin fibroblasts. The expression of unequivocal TPP‐I deficiency in CV demonstrates that enzyme assay is a reliable option for prenatal diagnosis of LINCL. Copyright © 2001 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/1097-0223(200102)21:2<99::AID-PD988>3.0.CO;2-F |
| format | Article |
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J. ; van Diggelen, O. P. ; Keulemans, J. L. M. ; Losekoot, M. ; Garritsen, V. H. ; Stroink, H. ; Majoor-Krakauer, D. ; Franken, P. F. ; Eurlings, M. C. M. ; Taschner, P. E. M. ; Los, F. J. ; Galjaard, R. J. H.</creator><creatorcontrib>Kleijer, W. J. ; van Diggelen, O. P. ; Keulemans, J. L. M. ; Losekoot, M. ; Garritsen, V. H. ; Stroink, H. ; Majoor-Krakauer, D. ; Franken, P. F. ; Eurlings, M. C. M. ; Taschner, P. E. M. ; Los, F. J. ; Galjaard, R. J. H.</creatorcontrib><description>Late‐infantile neuronal ceroid lipofuscinosis (LINCL) is a progressive neurodegenerative disorder caused by the deficiency of lysosomal tripeptidyl peptidase I (TPP‐I) encoded by the CLN2 gene. We report the first case of early prenatal diagnosis of LINCL by combined enzyme and mutation analysis. TPP‐I activity in chorionic villi (CV) was less than 2% of the mean normal control level and g.1946A>G and g.3670C>T mutations were demonstrated, as in the two previously affected children. After termination of pregnancy, TPP‐I deficiency was confirmed in cultured CV cells and in the fetal skin fibroblasts. The expression of unequivocal TPP‐I deficiency in CV demonstrates that enzyme assay is a reliable option for prenatal diagnosis of LINCL. Copyright © 2001 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/1097-0223(200102)21:2<99::AID-PD988>3.0.CO;2-F</identifier><identifier>PMID: 11241534</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Aminopeptidases ; Biological and medical sciences ; Chorionic Villi - enzymology ; Chorionic Villi Sampling ; CLN2 mutation analysis ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases ; Diseases of mother, fetus and pregnancy ; DNA Mutational Analysis ; Endopeptidases - deficiency ; Endopeptidases - genetics ; Errors of metabolism ; Female ; first-trimester diagnosis ; Gynecology. Andrology. Obstetrics ; Humans ; late-infantile neuronal ceroid lipofuscinosis ; Lipids (lysosomal enzyme disorders, storage diseases) ; Medical sciences ; Metabolic diseases ; Neuronal Ceroid-Lipofuscinoses - diagnosis ; Neuronal Ceroid-Lipofuscinoses - enzymology ; Neuronal Ceroid-Lipofuscinoses - genetics ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy. Fetus. 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J.</creatorcontrib><creatorcontrib>van Diggelen, O. P.</creatorcontrib><creatorcontrib>Keulemans, J. L. M.</creatorcontrib><creatorcontrib>Losekoot, M.</creatorcontrib><creatorcontrib>Garritsen, V. H.</creatorcontrib><creatorcontrib>Stroink, H.</creatorcontrib><creatorcontrib>Majoor-Krakauer, D.</creatorcontrib><creatorcontrib>Franken, P. F.</creatorcontrib><creatorcontrib>Eurlings, M. C. M.</creatorcontrib><creatorcontrib>Taschner, P. E. M.</creatorcontrib><creatorcontrib>Los, F. J.</creatorcontrib><creatorcontrib>Galjaard, R. J. H.</creatorcontrib><title>First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>Late‐infantile neuronal ceroid lipofuscinosis (LINCL) is a progressive neurodegenerative disorder caused by the deficiency of lysosomal tripeptidyl peptidase I (TPP‐I) encoded by the CLN2 gene. We report the first case of early prenatal diagnosis of LINCL by combined enzyme and mutation analysis. TPP‐I activity in chorionic villi (CV) was less than 2% of the mean normal control level and g.1946A>G and g.3670C>T mutations were demonstrated, as in the two previously affected children. After termination of pregnancy, TPP‐I deficiency was confirmed in cultured CV cells and in the fetal skin fibroblasts. The expression of unequivocal TPP‐I deficiency in CV demonstrates that enzyme assay is a reliable option for prenatal diagnosis of LINCL. Copyright © 2001 John Wiley & Sons, Ltd.</description><subject>Aminopeptidases</subject><subject>Biological and medical sciences</subject><subject>Chorionic Villi - enzymology</subject><subject>Chorionic Villi Sampling</subject><subject>CLN2 mutation analysis</subject><subject>Dipeptidyl-Peptidases and Tripeptidyl-Peptidases</subject><subject>Diseases of mother, fetus and pregnancy</subject><subject>DNA Mutational Analysis</subject><subject>Endopeptidases - deficiency</subject><subject>Endopeptidases - genetics</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>first-trimester diagnosis</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>late-infantile neuronal ceroid lipofuscinosis</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Neuronal Ceroid-Lipofuscinoses - diagnosis</subject><subject>Neuronal Ceroid-Lipofuscinoses - enzymology</subject><subject>Neuronal Ceroid-Lipofuscinoses - genetics</subject><subject>Pregnancy</subject><subject>Pregnancy Trimester, First</subject><subject>Pregnancy. Fetus. 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J.</creator><creator>van Diggelen, O. P.</creator><creator>Keulemans, J. L. M.</creator><creator>Losekoot, M.</creator><creator>Garritsen, V. H.</creator><creator>Stroink, H.</creator><creator>Majoor-Krakauer, D.</creator><creator>Franken, P. F.</creator><creator>Eurlings, M. C. M.</creator><creator>Taschner, P. E. M.</creator><creator>Los, F. J.</creator><creator>Galjaard, R. J. H.</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200102</creationdate><title>First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis</title><author>Kleijer, W. J. ; van Diggelen, O. P. ; Keulemans, J. L. M. ; Losekoot, M. ; Garritsen, V. H. ; Stroink, H. ; Majoor-Krakauer, D. ; Franken, P. F. ; Eurlings, M. C. M. ; Taschner, P. E. M. ; Los, F. J. ; Galjaard, R. J. H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4178-419bfeda13263f931d5d2f0651a283537340c4d64ea03a98faa2cdb81d6dbc563</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Aminopeptidases</topic><topic>Biological and medical sciences</topic><topic>Chorionic Villi - enzymology</topic><topic>Chorionic Villi Sampling</topic><topic>CLN2 mutation analysis</topic><topic>Dipeptidyl-Peptidases and Tripeptidyl-Peptidases</topic><topic>Diseases of mother, fetus and pregnancy</topic><topic>DNA Mutational Analysis</topic><topic>Endopeptidases - deficiency</topic><topic>Endopeptidases - genetics</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>first-trimester diagnosis</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>late-infantile neuronal ceroid lipofuscinosis</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Neuronal Ceroid-Lipofuscinoses - diagnosis</topic><topic>Neuronal Ceroid-Lipofuscinoses - enzymology</topic><topic>Neuronal Ceroid-Lipofuscinoses - genetics</topic><topic>Pregnancy</topic><topic>Pregnancy Trimester, First</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal Diagnosis</topic><topic>tripeptidyl peptidase I</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kleijer, W. J.</creatorcontrib><creatorcontrib>van Diggelen, O. P.</creatorcontrib><creatorcontrib>Keulemans, J. L. M.</creatorcontrib><creatorcontrib>Losekoot, M.</creatorcontrib><creatorcontrib>Garritsen, V. 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H.</au><au>Stroink, H.</au><au>Majoor-Krakauer, D.</au><au>Franken, P. F.</au><au>Eurlings, M. C. M.</au><au>Taschner, P. E. M.</au><au>Los, F. J.</au><au>Galjaard, R. J. H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2001-02</date><risdate>2001</risdate><volume>21</volume><issue>2</issue><spage>99</spage><epage>101</epage><pages>99-101</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Late‐infantile neuronal ceroid lipofuscinosis (LINCL) is a progressive neurodegenerative disorder caused by the deficiency of lysosomal tripeptidyl peptidase I (TPP‐I) encoded by the CLN2 gene. We report the first case of early prenatal diagnosis of LINCL by combined enzyme and mutation analysis. TPP‐I activity in chorionic villi (CV) was less than 2% of the mean normal control level and g.1946A>G and g.3670C>T mutations were demonstrated, as in the two previously affected children. After termination of pregnancy, TPP‐I deficiency was confirmed in cultured CV cells and in the fetal skin fibroblasts. The expression of unequivocal TPP‐I deficiency in CV demonstrates that enzyme assay is a reliable option for prenatal diagnosis of LINCL. Copyright © 2001 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>11241534</pmid><doi>10.1002/1097-0223(200102)21:2<99::AID-PD988>3.0.CO;2-F</doi><tpages>3</tpages></addata></record> |
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| subjects | Aminopeptidases Biological and medical sciences Chorionic Villi - enzymology Chorionic Villi Sampling CLN2 mutation analysis Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Diseases of mother, fetus and pregnancy DNA Mutational Analysis Endopeptidases - deficiency Endopeptidases - genetics Errors of metabolism Female first-trimester diagnosis Gynecology. Andrology. Obstetrics Humans late-infantile neuronal ceroid lipofuscinosis Lipids (lysosomal enzyme disorders, storage diseases) Medical sciences Metabolic diseases Neuronal Ceroid-Lipofuscinoses - diagnosis Neuronal Ceroid-Lipofuscinoses - enzymology Neuronal Ceroid-Lipofuscinoses - genetics Pregnancy Pregnancy Trimester, First Pregnancy. Fetus. Placenta Prenatal Diagnosis tripeptidyl peptidase I |
| title | First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis |
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