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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
G Matthijs1, E Schollen, C Bjursell
1Center for Human Genetics, University of Leuven, Leuven, Belgium. gert.matthijs@med.kuleuven.ac.be
Abstract:
The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et 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 et al., 1999; Mizugishi et al., 1999; Vuillaumier-Barrot et 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.
Insights
This study compiles data on 58 distinct PMM2 gene mutations found in 249 patients with CDG-Ia, representing a significant update on PMM2 mutations. The comprehensive database aims to aid researchers in understanding this genetic disorder.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- The PMM2 gene, responsible for CDG-Ia, was identified in 1997.
- Numerous PMM2 mutations have been reported in scientific literature and case studies.
- The increasing number of molecularly characterized cases necessitates a consolidated data repository.
Purpose of the Study:
- To systematically collect and list all known PMM2 mutations.
- To create a comprehensive database of PMM2 mutations from multiple diagnostic laboratories.
- To facilitate research on PMM2-related disorders by providing an updated mutation catalog.
Main Methods:
- Data collation from six research and diagnostic laboratories.
- Systematic search for PMM2 gene mutations.
- Collection of demographic data and mortality information for affected patients.
Main Results:
- A total of 58 different PMM2 mutations were identified.
- These mutations were found in 249 patients diagnosed with CDG-Ia.
- Data were collected from patients across 23 countries, with demographic and mortality information also registered.
Conclusions:
- This molecular update provides a comprehensive catalog of PMM2 mutations.
- The compiled data serves as a valuable resource for researchers studying CDG-Ia.
- An online database is established to continuously update PMM2 mutation information.