PMID- 10518030
OWN - NLM
STAT- MEDLINE
DCOM- 19991124
LR  - 20190621
IS  - 0014-5793 (Print)
IS  - 0014-5793 (Linking)
VI  - 459
IP  - 2
DP  - 1999 Oct 8
TI  - Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with
      glycogen storage diseases type 1b and 1c.
PG  - 255-8
AB  - 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.
FAU - Galli, L
AU  - Galli L
AD  - Unit of Medical Genetics, Policlinico Le Scotte, Siena, Italy.
FAU - Orrico, A
AU  - Orrico A
FAU - Marcolongo, P
AU  - Marcolongo P
FAU - Fulceri, R
AU  - Fulceri R
FAU - Burchell, A
AU  - Burchell A
FAU - Melis, D
AU  - Melis D
FAU - Parini, R
AU  - Parini R
FAU - Gatti, R
AU  - Gatti R
FAU - Lam, C
AU  - Lam C
FAU - Benedetti, A
AU  - Benedetti A
FAU - Sorrentino, V
AU  - Sorrentino V
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - FEBS Lett
JT  - FEBS letters
JID - 0155157
RN  - 0 (Antiporters)
RN  - 0 (Monosaccharide Transport Proteins)
RN  - 0 (SLC37A4 protein, human)
RN  - 0 (glucose 6-phosphate(transporter))
SB  - IM
MH  - Antiporters/*genetics
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Glycogen Storage Disease Type I/enzymology/*genetics
MH  - Humans
MH  - Monosaccharide Transport Proteins/*genetics
MH  - Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1999/10/13 00:00
MHDA- 1999/10/13 00:01
CRDT- 1999/10/13 00:00
PHST- 1999/10/13 00:00 [pubmed]
PHST- 1999/10/13 00:01 [medline]
PHST- 1999/10/13 00:00 [entrez]
AID - S001457939901248X [pii]
AID - 10.1016/s0014-5793(99)01248-x [doi]
PST - ppublish
SO  - FEBS Lett. 1999 Oct 8;459(2):255-8. doi: 10.1016/s0014-5793(99)01248-x.