doi: 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU23>3.0.CO;2-W.
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations
Affiliations
- PMID: 10612834
- DOI: 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU23>3.0.CO;2-W
Item in Clipboard
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations
Hum Mutat.
2000 Jan.
Abstract
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia (GSD Ia) revealed mutations on all 80 alleles and verified the diagnosis in all patients. At least 7 patients were diagnosed with GSD Ia solely on the basis of clinical findings prior to our analysis. Five mutations, Q20R, W50X, G81R, W156L, and G188D have not been reported so far. This study underscores that molecular genetic analysis is a reliable and convenient alternative to the enzyme assay in a fresh liver biopsy specimen to diagnose GSD Ia.
Copyright 2000 Wiley-Liss, Inc.
Similar articles
-
Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.Am J Med Genet. 2000 Mar 13;91(2):107-12. Am J Med Genet. 2000. PMID: 10748407
-
Glycogen storage disease type Ia: molecular study in Brazilian patients.J Hum Genet. 2001;46(3):146-9. doi: 10.1007/s100380170102. J Hum Genet. 2001. PMID: 11310582
-
[Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis].Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Feb;22(1):44-8. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005. PMID: 15696478 Chinese.
-
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.Eur J Pediatr. 2000 May;159(5):322-30. doi: 10.1007/s004310051281. Eur J Pediatr. 2000. PMID: 10834516 Review.
-
A case of glycogen storage disease type Ia with multiple hepatic adenomas and G727T mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported.Am J Gastroenterol. 1998 Sep;93(9):1550-3. doi: 10.1111/j.1572-0241.1998.00480.x. Am J Gastroenterol. 1998. PMID: 9732943 Review.
Cited by
-
Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.PLoS One. 2023 Nov 30;18(11):e0288965. doi: 10.1371/journal.pone.0288965. eCollection 2023. PLoS One. 2023. PMID: 38033126 Free PMC article.
-
Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development.JIMD Rep. 2021 Mar 28;60(1):56-66. doi: 10.1002/jmd2.12215. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258141 Free PMC article.
-
Molecular diagnosis of glycogen storage disease type I: a review.EXCLI J. 2019 Jan 30;18:30-46. eCollection 2019. EXCLI J. 2019. PMID: 30956637 Free PMC article. Review.
-
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.Hum Mutat. 2008 Jul;29(7):921-30. doi: 10.1002/humu.20772. Hum Mutat. 2008. PMID: 18449899 Free PMC article. Review.
MeSH terms
LinkOut - more resources
Full Text Sources
Molecular Biology Databases
