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- Publisher Website: 10.1016/S0014-5793(99)01248-X
- Scopus: eid_2-s2.0-0032826812
- PMID: 10518030
- WOS: WOS:000083127600022
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Article: Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
Title | Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c |
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Authors | |
Keywords | Glucose-6-phosphate Glycogen storage disease Mutation |
Issue Date | 1999 |
Publisher | Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/febslet |
Citation | Febs Letters, 1999, v. 459 n. 2, p. 255-258 How to Cite? |
Abstract | Glycogen storage diseases type 1 (GSD 1) are a group of autosomal recessive disorders characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Mutations of the glucose-6-phosphatase gene are responsible for the most frequent form of GSD 1, the subtype 1a, while mutations of the glucose-6-phosphate transporter gene (G6PT) have recently been shown to cause the non 1a forms of GSD, namely the 1b and 1c subtypes. Here, we report on the analysis by single-stranded conformation polymorphism (SSCP) and/or DNA sequencing of the exons of the G6PT in 14 patients diagnosed either as affected by the GSD 1b or 1c subtypes. Mutations in the G6PT gene were found in all patients. Four of the detected mutations were novel mutations, while the others were previously described. Our results confirm that the GSD 1b and 1c forms are due to mutations in the same gene, i.e. the G6PT gene. We also show that the same kind of mutation can be associated or not with evident clinical complications such as neutrophil impairment. Since no correlation between the type and position of the mutation and the severity of the disease was found, other unknown factors may cause the expression of symptoms, such as neutropenia, which dramatically influence the severity of the disease. |
Persistent Identifier | http://hdl.handle.net/10722/148140 |
ISSN | 2023 Impact Factor: 3.0 2023 SCImago Journal Rankings: 1.208 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Galli, L | en_US |
dc.contributor.author | Orrico, A | en_US |
dc.contributor.author | Marcolongo, P | en_US |
dc.contributor.author | Fulceri, R | en_US |
dc.contributor.author | Burchell, A | en_US |
dc.contributor.author | Melis, D | en_US |
dc.contributor.author | Parini, R | en_US |
dc.contributor.author | Gatti, R | en_US |
dc.contributor.author | Lam, CW | en_US |
dc.contributor.author | Benedetti, A | en_US |
dc.contributor.author | Sorrentino, V | en_US |
dc.date.accessioned | 2012-05-29T06:11:04Z | - |
dc.date.available | 2012-05-29T06:11:04Z | - |
dc.date.issued | 1999 | en_US |
dc.identifier.citation | Febs Letters, 1999, v. 459 n. 2, p. 255-258 | en_US |
dc.identifier.issn | 0014-5793 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/148140 | - |
dc.description.abstract | Glycogen storage diseases type 1 (GSD 1) are a group of autosomal recessive disorders characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Mutations of the glucose-6-phosphatase gene are responsible for the most frequent form of GSD 1, the subtype 1a, while mutations of the glucose-6-phosphate transporter gene (G6PT) have recently been shown to cause the non 1a forms of GSD, namely the 1b and 1c subtypes. Here, we report on the analysis by single-stranded conformation polymorphism (SSCP) and/or DNA sequencing of the exons of the G6PT in 14 patients diagnosed either as affected by the GSD 1b or 1c subtypes. Mutations in the G6PT gene were found in all patients. Four of the detected mutations were novel mutations, while the others were previously described. Our results confirm that the GSD 1b and 1c forms are due to mutations in the same gene, i.e. the G6PT gene. We also show that the same kind of mutation can be associated or not with evident clinical complications such as neutrophil impairment. Since no correlation between the type and position of the mutation and the severity of the disease was found, other unknown factors may cause the expression of symptoms, such as neutropenia, which dramatically influence the severity of the disease. | en_US |
dc.language | eng | en_US |
dc.publisher | Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/febslet | en_US |
dc.relation.ispartof | FEBS Letters | en_US |
dc.subject | Glucose-6-phosphate | - |
dc.subject | Glycogen storage disease | - |
dc.subject | Mutation | - |
dc.subject.mesh | Antiporters - Genetics | en_US |
dc.subject.mesh | Dna Mutational Analysis | en_US |
dc.subject.mesh | Exons | en_US |
dc.subject.mesh | Glycogen Storage Disease Type I - Enzymology - Genetics | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Monosaccharide Transport Proteins - Genetics | en_US |
dc.subject.mesh | Point Mutation | en_US |
dc.subject.mesh | Polymorphism, Single-Stranded Conformational | en_US |
dc.title | Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c | en_US |
dc.type | Article | en_US |
dc.identifier.email | Lam, CW:ching-wanlam@pathology.hku.hk | en_US |
dc.identifier.authority | Lam, CW=rp00260 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1016/S0014-5793(99)01248-X | en_US |
dc.identifier.pmid | 10518030 | en_US |
dc.identifier.scopus | eid_2-s2.0-0032826812 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0032826812&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 459 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.spage | 255 | en_US |
dc.identifier.epage | 258 | en_US |
dc.identifier.isi | WOS:000083127600022 | - |
dc.publisher.place | Netherlands | en_US |
dc.identifier.issnl | 0014-5793 | - |