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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

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Matthijs, G. Schollen, E. Bjursell, C Erlandson, A Freeze, H Winchester, B.

The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs ct al., 1997b]. Several publications list PMM2 mutations [Matthijs et al., 1997b, 1998; Kjaergaard et al., 1998, 1999; Bjursell et al., 1998, 2000; Imtiaz et al., 2000] and a few mutations have appeared in case reports or abstracts [Crosby et al., 1999; Kondo et al., 1999; Krasnewich ct al,, 1999; Mizugishi et al,, 1999; Vuillaumier-Barrot ct al., 1999, 2000b]. However, the number of molecularly characterized cases is steadily increasing and many new mutations may never make it to the literature. Therefore, we decided to collate data from six research and diagnostic laboratories that have committed themselves to a systematic search for PMM2 mutations. In total we list 58 different mutations found in 249 patients from 23 countries. We have also collected demographic data and registered the number of deceased patients. The documentation of the genotype-phenotype correlation is certainly valuable, but is out of the scope of this molecular update. The list of mutations will also be available online (URL: http://www.kuleuven.ac.be/med/cdg) and investigators are invited to submit new data to this PMM2 mutation database. Hum Mutat 16:386-394, 2000. (C) 2000 Wiley-Liss, Inc.

Document type Article de périodique (Journal article) – Article de recherche
Publication date 2000
Language Anglais
Journal information "Human Mutation" - Vol. 16, no. 5, p. 386-394 (2000)
Peer reviewed yes
Publisher Wiley-liss (New York)
issn 1059-7794
e-issn 1098-1004
Publication status Publié
Affiliation UCL
Keywords congenital disorders of glycosylation, type Ia ; CDG-Ia ; carbohydrate-deficient glycoprotein ; syndrome ; CDGS ; phosphomannomutase 2 ; PMM2 ; mutation analysis
Links
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Bibliographic reference Matthijs, G. ; Schollen, E. ; Bjursell, C ; Erlandson, A ; Freeze, H ; et. al. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). In: Human Mutation, Vol. 16, no. 5, p. 386-394 (2000)
Permanent URL http://hdl.handle.net/2078.1/43235