PMID- 10070617
OWN - NLM
STAT- MEDLINE
DCOM- 19990528
LR  - 20190831
IS  - 0141-8955 (Print)
IS  - 0141-8955 (Linking)
VI  - 22
IP  - 1
DP  - 1999 Feb
TI  - Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen 
      storage disease type Ia.
PG  - 43-9
AB  - Type Ia glycogen storage disease (GSD1a) is an autosomal recessive metabolic
      disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). Recent cloning
      of the G6Pase gene and the subsequent identification of several disease-causing
      mutations have shown an ethnic molecular heterogeneity. Using SSCP analysis and
      DNA sequencing, we characterized the G6Pase gene of 53 unrelated Italian
      patients. The two most common mutations, R83C and Q347X, accounted for 66.9% of
      the mutant alleles. Eight novel mutations and three rare mutations were
      identified in 15.7% of disease alleles. These results suggest that a DNA-based
      method can be used as an initial screening in Italian patients clinically
      suspected of having GSD1a, avoiding liver biopsy for enzymatic diagnosis. In
      particular, a noninvasive diagnosis is a suitable method for the Italian
      subpopulation coming from Sicily, where the R83C mutation is present in 80% of
      mutant alleles. Molecular carrier detection and prenatal diagnosis can be
      provided to GSD1a families with identified mutation in the propositus.
FAU - Stroppiano, M
AU  - Stroppiano M
AD  - Laboratorio Diagnosi Pre e Postnatale Malattie Metaboliche, Genoa, Italy.
FAU - Regis, S
AU  - Regis S
FAU - DiRocco, M
AU  - DiRocco M
FAU - Caroli, F
AU  - Caroli F
FAU - Gandullia, P
AU  - Gandullia P
FAU - Gatti, R
AU  - Gatti R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Inherit Metab Dis
JT  - Journal of inherited metabolic disease
JID - 7910918
RN  - EC 3.1.3.9 (Glucose-6-Phosphatase)
SB  - IM
MH  - Alleles
MH  - Glucose-6-Phosphatase/*genetics
MH  - Glycogen Storage Disease Type I/*enzymology/*genetics
MH  - Humans
MH  - Italy
MH  - *Mutation
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1999/03/10 00:00
MHDA- 1999/03/10 00:01
CRDT- 1999/03/10 00:00
PHST- 1999/03/10 00:00 [pubmed]
PHST- 1999/03/10 00:01 [medline]
PHST- 1999/03/10 00:00 [entrez]
AID - 10.1023/a:1005495131118 [doi]
PST - ppublish
SO  - J Inherit Metab Dis. 1999 Feb;22(1):43-9. doi: 10.1023/a:1005495131118.