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

The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Ma tthijs ct al., 1997b]. Several publications list PMM2 mutations [Matthijs e t al., 1997b, 1998; Kjaergaard et al., 1998, 1999; Bjursell et al., 1998, 2 000; 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]. Howe ver, the number of molecularly characterized cases is steadily increasing a nd many new mutations may never make it to the literature. Therefore, we de cided to collate data from six research and diagnostic laboratories that ha ve 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 certa inly valuable, but is out of the scope of this molecular update. The list o f mutations will also be available online (URL: http://www.kuleuven.ac.be/m ed/cdg) and investigators are invited to submit new data to this PMM2 mutat ion database. Hum Mutat 16:386-394, 2000. (C) 2000 Wiley-Liss, Inc.