1. Name of the disease (synonyms)
Deficiency of UDP-galactose:O-beta-d-xylosylprotein 4-d-galactosyltransferase, deficiency of xylosylprotein 4-beta-galactosyltransferase, polypeptide 7, deficiency of galactosyltransferase I, B4GALT7 deficiency, B4GALT7-CDG, progeroid form of Ehlers–Danlos syndrome, type 1, Ehlers–Danlos syndrome with short stature and limb anomalies, Larsen of Reunion Island syndrome.
2. OMIM# of the disease
130070.
3. Name of the analysed genes or DNA/chromosome segments
B4GALT7.
4. OMIM# of the gene(s)
604327.
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in
B4GALT7
in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.
- Jaak Jaeken
- Dirk J Lefeber
- Gert Matthijs
