PMID- 10482962
OWN - NLM
STAT- MEDLINE
DCOM- 19991101
LR  - 20071114
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 6
DP  - 1999 Sep
TI  - The putative glucose 6-phosphate translocase gene is mutated in essentially all
      cases of glycogen storage disease type I non-a.
PG  - 717-23
AB  - The purpose of this work was to test the hypothesis that mutations in the
      putative glucose 6-phosphate translocase gene would account for most of the cases
      of GSD I that are not explained by mutations in the phosphohydrolase gene, ie
      that are not type Ia. Twenty-three additional families diagnosed as having GSD I 
      non-a (GSDIb, Ic or Id) have now been analysed. The 9exons of the gene were
      amplified by PCR and mutations searched both by SSCP and heteroduplex analysis.
      Except for one family in which only one mutation was found, all patients had two 
      allelic mutations in the gene encoding the putative glucose 6-phosphate
      translocase. Sixteen of the mutations are new and they are all predicted to lead 
      to non-functional proteins. All investigated patients had some degree of
      neutropenia or neutrophil dysfunction and the clinical phenotype of the four new 
      patients who had been diagnosed as GSD Ic and the one diagnosed as GSD Id was no 
      different from the GSD Ib patients. Since these patients, and the four type Ic
      patients from two families previously studied, shared several mutations with GSD 
      Ib patients, we conclude that their basic defect is in the putative glucose
      6-phosphate translocase and that they should be reclassified as GSD Ib. Isolated 
      defects in microsomal Pi transporter or in microsomal glucose transporter must be
      very rare or have phenotypes that are not recognised as GSD I, so that in
      practice there are only two subtypes of GSD I (GSD Ia and GSD Ib).
FAU - Veiga-da-Cunha, M
AU  - Veiga-da-Cunha M
AD  - Laboratory of Physiological Chemistry, Brussels, Belgium.
      veigadacunha@bchm.ucl.ac.be
FAU - Gerin, I
AU  - Gerin I
FAU - Chen, Y T
AU  - Chen YT
FAU - Lee, P J
AU  - Lee PJ
FAU - Leonard, J V
AU  - Leonard JV
FAU - Maire, I
AU  - Maire I
FAU - Wendel, U
AU  - Wendel U
FAU - Vikkula, M
AU  - Vikkula M
FAU - Van Schaftingen, E
AU  - Van Schaftingen E
LA  - eng
GR  - M01-RR30/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Antiporters)
RN  - 0 (Monosaccharide Transport Proteins)
RN  - 0 (Nucleic Acid Heteroduplexes)
RN  - 0 (SLC37A4 protein, human)
RN  - 0 (glucose 6-phosphate(transporter))
RN  - EC 2.7.- (Phosphotransferases)
SB  - IM
MH  - Alleles
MH  - Antiporters
MH  - Exons
MH  - Female
MH  - Gene Deletion
MH  - Glycogen Storage Disease Type I/*genetics
MH  - Humans
MH  - Introns
MH  - Liver/enzymology
MH  - Male
MH  - Models, Genetic
MH  - Monosaccharide Transport Proteins
MH  - *Mutation
MH  - Nucleic Acid Heteroduplexes
MH  - Phosphotransferases/*genetics/metabolism
MH  - Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - RNA Splicing
EDAT- 1999/09/14 00:00
MHDA- 1999/09/14 00:01
CRDT- 1999/09/14 00:00
PHST- 1999/09/14 00:00 [pubmed]
PHST- 1999/09/14 00:01 [medline]
PHST- 1999/09/14 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200366 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Sep;7(6):717-23. doi: 10.1038/sj.ejhg.5200366.