Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
(2000) In Human Mutation 16(3). p.247-252- Abstract
CDG-Ib is the 'gastro-intestinal' type of the congenital disorders of glycosylation (CDG) and a potentially treatable disorder. It has been described in patients presenting with congenital hepatic fibrosis and protein losing enteropathy. The symptoms result from hypoglycosylation of serum and other glycoproteins. CDG-Ib is caused by a deficiency of mannose-6-phosphate isomerase (synonym: phosphomannose isomerase, EC 5.3.1.8), due to mutations in the MPI gene. We determined the genomic structure of the MPI gene in order to simplify mutation detection. The gene is composed of 8 exons and spans only 5 kb. Eight (7 novel) different mutations were found in seven patients with a confirmed phosphomannose isomerase deficiency, analyzed in the... (More)
CDG-Ib is the 'gastro-intestinal' type of the congenital disorders of glycosylation (CDG) and a potentially treatable disorder. It has been described in patients presenting with congenital hepatic fibrosis and protein losing enteropathy. The symptoms result from hypoglycosylation of serum and other glycoproteins. CDG-Ib is caused by a deficiency of mannose-6-phosphate isomerase (synonym: phosphomannose isomerase, EC 5.3.1.8), due to mutations in the MPI gene. We determined the genomic structure of the MPI gene in order to simplify mutation detection. The gene is composed of 8 exons and spans only 5 kb. Eight (7 novel) different mutations were found in seven patients with a confirmed phosphomannose isomerase deficiency, analyzed in the context of this study: six missense mutations, a splice mutation and one insertion. In the last, the mutation resulted in an unstable transcript, and was hardly detectable at the mRNA level. This emphasizes the importance of mutation analysis at the genomic DNA level. (C) 2000 Wiley-Liss, Inc.
(Less)
- author
- publishing date
- 2000-09
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Carbohydrate deficient glycoprotein syndrome, CDG, Mannose therapy, Mannosephosphate isomerase, Metabolic disorders, MPI, Mutation database, Phosphomannose isomerase
- in
- Human Mutation
- volume
- 16
- issue
- 3
- pages
- 247 - 252
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- scopus:0033856148
- pmid:10980531
- ISSN
- 1059-7794
- DOI
- 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A
- language
- English
- LU publication?
- no
- id
- 08706d06-05a1-4a31-87e8-829c36866e21
- date added to LUP
- 2020-03-03 19:14:51
- date last changed
- 2024-04-17 06:17:09
@article{08706d06-05a1-4a31-87e8-829c36866e21, abstract = {{<p>CDG-Ib is the 'gastro-intestinal' type of the congenital disorders of glycosylation (CDG) and a potentially treatable disorder. It has been described in patients presenting with congenital hepatic fibrosis and protein losing enteropathy. The symptoms result from hypoglycosylation of serum and other glycoproteins. CDG-Ib is caused by a deficiency of mannose-6-phosphate isomerase (synonym: phosphomannose isomerase, EC 5.3.1.8), due to mutations in the MPI gene. We determined the genomic structure of the MPI gene in order to simplify mutation detection. The gene is composed of 8 exons and spans only 5 kb. Eight (7 novel) different mutations were found in seven patients with a confirmed phosphomannose isomerase deficiency, analyzed in the context of this study: six missense mutations, a splice mutation and one insertion. In the last, the mutation resulted in an unstable transcript, and was hardly detectable at the mRNA level. This emphasizes the importance of mutation analysis at the genomic DNA level. (C) 2000 Wiley-Liss, Inc.</p>}}, author = {{Schollen, E. and Dorland, L. and De Koning, T. J. and Van Diggelen, O. P. and Huijmans, J. G.M. and Marquardt, T. and Babovic-Vuksanovic, D. and Patterson, M. and Imtiaz, F. and Winchester, B. and Adamowicz, M. and Pronicka, E. and Freeze, H. and Matthijs, G.}}, issn = {{1059-7794}}, keywords = {{Carbohydrate deficient glycoprotein syndrome; CDG; Mannose therapy; Mannosephosphate isomerase; Metabolic disorders; MPI; Mutation database; Phosphomannose isomerase}}, language = {{eng}}, number = {{3}}, pages = {{247--252}}, publisher = {{John Wiley & Sons Inc.}}, series = {{Human Mutation}}, title = {{Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)}}, url = {{http://dx.doi.org/10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A}}, doi = {{10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A}}, volume = {{16}}, year = {{2000}}, }