PMID- 10482875
OWN - NLM
STAT- MEDLINE
DCOM- 19991105
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 86
IP  - 3
DP  - 1999 Sep 17
TI  - Glycogen storage disease type Ib: structural and mutational analysis of the
      microsomal glucose-6-phosphate transporter gene.
PG  - 253-7
AB  - Glycogen storage disease type Ib is caused by a mutation in the gene encoding
      microsomal glucose-6-phosphate (G6P) transporter. We determined the exon/intron
      organization of the G6P transporter gene. Four overlapping genomic fragments
      containing the entire coding region of the gene were amplified by polymerase
      chain reaction (PCR) using exonic primers, and their nucleotide sequences were
      determined. The gene spans 4.5 kb and has eight exons. All exon/intron boundaries
      adhered to the canonical AG/GT rule. We then designed eight pairs of PCR primers 
      to amplify all coding exons for a mutational analysis and studied five Japanese
      patients with the disease. Two novel homozygous mutations were identified in two 
      families: a three-base deletion (delV235) in exon 2 in a consanguineous family
      and a splicing mutation (IVS7+1G-->T) in intron 7 in a nonconsanguineous family. 
      Patient 3 was a compound heterozygote of W118R and IVS1+1G-->A, both of which we 
      previously identified [Kure et al., 1998: Biochem Biophys Res Commun
      248:426-431]. Patients 4 and 5 were homozygotes of W118R. Including our previous 
      study, we found a total of ten W118R alleles in nine Japanese patients. The
      results support our previous suggestion that W118R is prevalent among Japanese
      patients. The genomic sequence data and mutation spectrum obtained from the
      Japanese patients will facilitate genetic diagnosis of glycogen storage disease
      type Ib.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Hou, D C
AU  - Hou DC
AD  - Department of Medical Genetics, Tohoku University of School of Medicine, Sendai, 
      Japan.
FAU - Kure, S
AU  - Kure S
FAU - Suzuki, Y
AU  - Suzuki Y
FAU - Hasegawa, Y
AU  - Hasegawa Y
FAU - Hara, Y
AU  - Hara Y
FAU - Inoue, T
AU  - Inoue T
FAU - Kida, Y
AU  - Kida Y
FAU - Matsubara, Y
AU  - Matsubara Y
FAU - Narisawa, K
AU  - Narisawa K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Antiporters)
RN  - 0 (DNA Primers)
RN  - 0 (Monosaccharide Transport Proteins)
RN  - 0 (SLC37A4 protein, human)
RN  - 0 (glucose 6-phosphate(transporter))
RN  - 56-73-5 (Glucose-6-Phosphate)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Antiporters/*genetics
MH  - Base Sequence
MH  - DNA/genetics
MH  - DNA Mutational Analysis
MH  - DNA Primers/genetics
MH  - Exons
MH  - Female
MH  - Glucose-6-Phosphate/metabolism
MH  - Glycogen Storage Disease Type I/*genetics/*metabolism
MH  - Heterozygote
MH  - Homozygote
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Introns
MH  - Japan
MH  - Male
MH  - Microsomes/metabolism
MH  - Molecular Sequence Data
MH  - Monosaccharide Transport Proteins/*genetics
MH  - *Mutation
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 - 10.1002/(SICI)1096-8628(19990917)86:3<253::AID-AJMG11>3.0.CO;2-7 [pii]
AID - 10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7 [doi]
PST - ppublish
SO  - Am J Med Genet. 1999 Sep 17;86(3):253-7. doi:
      10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7.