First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

B.B.A. de Vries; W.J. Kleijer; J. L.M. Keulemans; Y. V. Voznyi; P. F. Franken; M. C.M. Eurlings; R. J. Galjaard; M. Losekoot; C. E. Catsman-Berrevoets; M. H. Breuning; P. E.M. Taschner; O. P. Van Diggelen

doi:10.1002/(SICI)1097-0223(199906)19:6<559::AID-PD587>3.0.CO;2-8

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

B.B.A. de Vries^*
, W.J. Kleijer
, J. L.M. Keulemans
, Y. V. Voznyi
, P. F. Franken
, M. C.M. Eurlings
, R. J. Galjaard
, M. Losekoot
, C. E. Catsman-Berrevoets
, M. H. Breuning
, P. E.M. Taschner
, O. P. Van Diggelen

^*Corresponding author for this work

University Hospital Dijkzigt
Erasmus University Medical Centre
Institute of Organic Chemistry
Leiden University Medical Centre
Leiden University

Research output: Contribution to journal › Article › Academic › peer-review

20 Citations (Scopus)

Abstract

Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy at risk for INCL, chorionic villi (CV) were studied using a novel fluorometric PPT enzyme assay in combination with mutation-analysis of the CLN1 gene. The PPT activity in chorionic villi was found to be deficient and homozygosity for the C451T mutation in CLN1 was found. The pregnancy was terminated and the PPT deficiency was confirmed in cultured CV cells as well as in the cultured fetal skin fibroblasts. This report shows the first early prenatal diagnosis of INCL performed by fluorometric enzyme analysis and mutation analysis of the CLN1 gene.

Original language	English
Pages (from-to)	559-562
Number of pages	4
Journal	Prenatal Diagnosis
Volume	19
Issue number	6
DOIs	https://doi.org/10.1002/(SICI)1097-0223(199906)19:6<559::AID-PD587>3.0.CO;2-8
Publication status	Published - 7 Jun 1999

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10.1002/(SICI)1097-0223(199906)19:6<559::AID-PD587>3.0.CO;2-8

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de Vries, B. B. A., Kleijer, W. J., Keulemans, J. L. M., Voznyi, Y. V., Franken, P. F., Eurlings, M. C. M., Galjaard, R. J., Losekoot, M., Catsman-Berrevoets, C. E., Breuning, M. H., Taschner, P. E. M., & Van Diggelen, O. P. (1999). First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. Prenatal Diagnosis, 19(6), 559-562. https://doi.org/10.1002/(SICI)1097-0223(199906)19:6<559::AID-PD587>3.0.CO;2-8

@article{9c8c4bec362d465aad226d95c1a9a2fc,

title = "First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis",

abstract = "Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy at risk for INCL, chorionic villi (CV) were studied using a novel fluorometric PPT enzyme assay in combination with mutation-analysis of the CLN1 gene. The PPT activity in chorionic villi was found to be deficient and homozygosity for the C451T mutation in CLN1 was found. The pregnancy was terminated and the PPT deficiency was confirmed in cultured CV cells as well as in the cultured fetal skin fibroblasts. This report shows the first early prenatal diagnosis of INCL performed by fluorometric enzyme analysis and mutation analysis of the CLN1 gene.",

author = "\{de Vries\}, B.B.A. and W.J. Kleijer and Keulemans, \{J. L.M.\} and Voznyi, \{Y. V.\} and Franken, \{P. F.\} and Eurlings, \{M. C.M.\} and Galjaard, \{R. J.\} and M. Losekoot and Catsman-Berrevoets, \{C. E.\} and Breuning, \{M. H.\} and Taschner, \{P. E.M.\} and \{Van Diggelen\}, \{O. P.\}",

note = "Copyright {\textcopyright} 1999 John Wiley \& Sons, Ltd. ",

year = "1999",

month = jun,

day = "7",

doi = "10.1002/(SICI)1097-0223(199906)19:6<559::AID-PD587>3.0.CO;2-8",

language = "English",

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de Vries, BBA, Kleijer, WJ, Keulemans, JLM, Voznyi, YV, Franken, PF, Eurlings, MCM, Galjaard, RJ, Losekoot, M, Catsman-Berrevoets, CE, Breuning, MH, Taschner, PEM & Van Diggelen, OP 1999, 'First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis', Prenatal Diagnosis, vol. 19, no. 6, pp. 559-562. https://doi.org/10.1002/(SICI)1097-0223(199906)19:6<559::AID-PD587>3.0.CO;2-8

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AU - de Vries, B.B.A.

AU - Kleijer, W.J.

AU - Keulemans, J. L.M.

AU - Voznyi, Y. V.

AU - Franken, P. F.

AU - Eurlings, M. C.M.

AU - Galjaard, R. J.

AU - Losekoot, M.

AU - Catsman-Berrevoets, C. E.

AU - Breuning, M. H.

AU - Taschner, P. E.M.

AU - Van Diggelen, O. P.

PY - 1999/6/7

Y1 - 1999/6/7

N2 - Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy at risk for INCL, chorionic villi (CV) were studied using a novel fluorometric PPT enzyme assay in combination with mutation-analysis of the CLN1 gene. The PPT activity in chorionic villi was found to be deficient and homozygosity for the C451T mutation in CLN1 was found. The pregnancy was terminated and the PPT deficiency was confirmed in cultured CV cells as well as in the cultured fetal skin fibroblasts. This report shows the first early prenatal diagnosis of INCL performed by fluorometric enzyme analysis and mutation analysis of the CLN1 gene.

AB - Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy at risk for INCL, chorionic villi (CV) were studied using a novel fluorometric PPT enzyme assay in combination with mutation-analysis of the CLN1 gene. The PPT activity in chorionic villi was found to be deficient and homozygosity for the C451T mutation in CLN1 was found. The pregnancy was terminated and the PPT deficiency was confirmed in cultured CV cells as well as in the cultured fetal skin fibroblasts. This report shows the first early prenatal diagnosis of INCL performed by fluorometric enzyme analysis and mutation analysis of the CLN1 gene.

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U2 - 10.1002/(SICI)1097-0223(199906)19:6<559::AID-PD587>3.0.CO;2-8

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AN - SCOPUS:0033013849

SN - 0197-3851

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JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

IS - 6

ER -

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

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