Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value
Identifieur interne : 002024 ( Main/Exploration ); précédent : 002023; suivant : 002025Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value
Auteurs : Rolf G. Boot [Pays-Bas] ; Carla E. M. Hollak [Pays-Bas] ; Marri Verhoek [Pays-Bas] ; Paul Sloof [Pays-Bas] ; Ben J. H. M. Poorthuis [Pays-Bas] ; Wim J. Kleijer [Pays-Bas] ; Ron A. Wevers [Pays-Bas] ; Marinus H. J. Van Oers [Pays-Bas] ; Marcel M. A. M. Mannens [Pays-Bas] ; Johannes M. F. G. Aerts [Pays-Bas] ; Sonja Van Weely [Pays-Bas]Source :
- Human Mutation [ 1059-7794 ] ; 1997.
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Abstract
Gaucher disease is a recessively inherited lysosomal storage disorder that is caused by a deficiency in glucocerebrosidase activity. The clinical expression is markedly heterogeneous with respect to age of onset, progression, severity, and neurological involvement. The relative incidence of glucocerebrosidase (GC) mutations has been studied extensively for Jewish but not for non‐Jewish Caucasian patient populations. The present survey on mutant GC genotypes prevalent in Gaucher disease in The Netherlands was taken of 72 patients from different genetic backgrounds. This number is more than half the total number of affected Gaucher patients to be expected on the basis of the incidence of the disorder in this country. Analysis of nine GC mutations led to the identification of 74% of the mutant GC alleles in patients from 44 unrelated Dutch families (i.e., families that have lived in The Netherlands for at least several generations) and of 44% of the mutant GC alleles in patients from nine unrelated families that recently immigrated from both European and non‐European countries. The N370S (cDNA 1226G) GC mutation proved to occur most frequently (41%) in the unrelated Dutch patients and less frequently (6%) in the unrelated immigrant patients and was always associated with the nonneuronopathic (Type 1) form of the disease. Apart from the association of the N370S mutation with Type 1 Gaucher disease, the prognostic value of GC genotyping was limited, since a particular GC genotype did not correlate closely to a specific clinical course, or to a specific relative responsiveness to enzyme‐supplementation therapy. Hum Mutat 10:348–358, 1997. © 1997 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B
Affiliations:
- Pays-Bas
- Gueldre, Hollande-Méridionale, Hollande-Septentrionale
- Amsterdam, Leyde, Nimègue, Rotterdam
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H. M." last="Poorthuis">Ben J. H. M. Poorthuis</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Clinical Genetics Center, University of Leiden, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Kleijer, Wim J" sort="Kleijer, Wim J" uniqKey="Kleijer W" first="Wim J." last="Kleijer">Wim J. Kleijer</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus University, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Wevers, Ron A" sort="Wevers, Ron A" uniqKey="Wevers R" first="Ron A." last="Wevers">Ron A. Wevers</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Institute of Neurology, University Hospital Nijmegen, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Oers, Marinus H J" sort="Van Oers, Marinus H J" uniqKey="Van Oers M" first="Marinus H. J." last="Van Oers">Marinus H. J. Van Oers</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine and Hematology, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Mannens, Marcel M A M" sort="Mannens, Marcel M A M" uniqKey="Mannens M" first="Marcel M. A. M." last="Mannens">Marcel M. A. M. Mannens</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Institute for Anthropogenetics, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Aerts, Johannes M F G" sort="Aerts, Johannes M F G" uniqKey="Aerts J" first="Johannes M. F. G." last="Aerts">Johannes M. F. G. Aerts</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Biochemistry, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Van Weely, Sonja" sort="Van Weely, Sonja" uniqKey="Van Weely S" first="Sonja" last="Van Weely">Sonja Van Weely</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Biochemistry, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Mutation</title><title level="j" type="abbrev">Hum. Mutat.</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1997">1997</date><biblScope unit="volume">10</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="348">348</biblScope><biblScope unit="page" to="358">358</biblScope></imprint><idno type="ISSN">1059-7794</idno></series><idno type="istex">86FCDA619F9F753BDDB12D74282FABCACD695F9B</idno><idno type="DOI">10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B</idno><idno type="ArticleID">HUMU3</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gaucher disease</term><term>glucocerebrosidase</term><term>glucosylceramide lipidosis</term><term>lysosomal storage disorder</term><term>mutation analysis</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Gaucher disease is a recessively inherited lysosomal storage disorder that is caused by a deficiency in glucocerebrosidase activity. The clinical expression is markedly heterogeneous with respect to age of onset, progression, severity, and neurological involvement. The relative incidence of glucocerebrosidase (GC) mutations has been studied extensively for Jewish but not for non‐Jewish Caucasian patient populations. The present survey on mutant GC genotypes prevalent in Gaucher disease in The Netherlands was taken of 72 patients from different genetic backgrounds. This number is more than half the total number of affected Gaucher patients to be expected on the basis of the incidence of the disorder in this country. Analysis of nine GC mutations led to the identification of 74% of the mutant GC alleles in patients from 44 unrelated Dutch families (i.e., families that have lived in The Netherlands for at least several generations) and of 44% of the mutant GC alleles in patients from nine unrelated families that recently immigrated from both European and non‐European countries. The N370S (cDNA 1226G) GC mutation proved to occur most frequently (41%) in the unrelated Dutch patients and less frequently (6%) in the unrelated immigrant patients and was always associated with the nonneuronopathic (Type 1) form of the disease. Apart from the association of the N370S mutation with Type 1 Gaucher disease, the prognostic value of GC genotyping was limited, since a particular GC genotype did not correlate closely to a specific clinical course, or to a specific relative responsiveness to enzyme‐supplementation therapy. Hum Mutat 10:348–358, 1997. © 1997 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Gueldre</li><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li><li>Leyde</li><li>Nimègue</li><li>Rotterdam</li></settlement></list><tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Boot, Rolf G" sort="Boot, Rolf G" uniqKey="Boot R" first="Rolf G." last="Boot">Rolf G. Boot</name></region><name sortKey="Aerts, Johannes M F G" sort="Aerts, Johannes M F G" uniqKey="Aerts J" first="Johannes M. F. G." last="Aerts">Johannes M. F. G. Aerts</name><name sortKey="Hollak, Carla E M" sort="Hollak, Carla E M" uniqKey="Hollak C" first="Carla E. M." last="Hollak">Carla E. M. Hollak</name><name sortKey="Kleijer, Wim J" sort="Kleijer, Wim J" uniqKey="Kleijer W" first="Wim J." last="Kleijer">Wim J. Kleijer</name><name sortKey="Mannens, Marcel M A M" sort="Mannens, Marcel M A M" uniqKey="Mannens M" first="Marcel M. A. M." last="Mannens">Marcel M. A. M. Mannens</name><name sortKey="Poorthuis, Ben J H M" sort="Poorthuis, Ben J H M" uniqKey="Poorthuis B" first="Ben J. H. M." last="Poorthuis">Ben J. H. M. Poorthuis</name><name sortKey="Sloof, Paul" sort="Sloof, Paul" uniqKey="Sloof P" first="Paul" last="Sloof">Paul Sloof</name><name sortKey="Van Oers, Marinus H J" sort="Van Oers, Marinus H J" uniqKey="Van Oers M" first="Marinus H. J." last="Van Oers">Marinus H. J. Van Oers</name><name sortKey="Van Weely, Sonja" sort="Van Weely, Sonja" uniqKey="Van Weely S" first="Sonja" last="Van Weely">Sonja Van Weely</name><name sortKey="Verhoek, Marri" sort="Verhoek, Marri" uniqKey="Verhoek M" first="Marri" last="Verhoek">Marri Verhoek</name><name sortKey="Wevers, Ron A" sort="Wevers, Ron A" uniqKey="Wevers R" first="Ron A." last="Wevers">Ron A. 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