ArticleAmerican journal of human genetics1997
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed.
- Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency.Italian journal of pediatrics · 2025Observational
- The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism.Case reports in medicine · 2025Article
- Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.Molecular genetics and metabolism reports · 2024Article
- Article
- Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association.Frontiers in genetics · 2024Article
- Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.Communications biology · 2023Article
- Expression of fructose-1,6-bisphosphatase 1 is associated with [European radiology · 2023Article
- The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.Genetics and molecular biology · 2021Article
- Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.Saudi medical journal · 2020Observational
- Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.Metabolic brain disease · 2019Article
- Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused byPediatric investigation · 2019Article
- Fructose 1,6-Bioscience reports · 2019Article
- Characterization of recombinant fructose-1,6-bisphosphatase gene mutations: evidence of inhibition/activation of FBPase protein by gene mutation.Bioscience reports · 2019Article
- Heterogeneity in Metabolic Responses to Dietary Fructose.Frontiers in genetics · 2019Review
- International practices in the dietary management of fructose 1-6 biphosphatase deficiency.Orphanet journal of rare diseases · 2018Article
- Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.International journal of molecular sciences · 2017Article
- MAGE-TRIM28 complex promotes the Warburg effect and hepatocellular carcinoma progression by targeting FBP1 for degradation.Oncogenesis · 2017Article
- A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novelClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2017Article
- A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.Orphanet journal of rare diseases · 2016Article
- Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.Scientifica · 2016Review
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14 authors.
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Abstract
Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive inherited disorder and may cause sudden unexpected infant death. We reported the first case of molecular diagnosis of FBPase deficiency, using cultured monocytes as a source for FBPase mRNA. In the present study, we confirmed the presence of the same genetic mutation in this patient by amplifying genomic DNA. Molecular analysis was also performed to diagnose another 12 Japanese patients with FBPase deficiency. Four mutations responsible for FBPase deficiency were identified in 10 patients from 8 unrelated families among a total of 13 patients from 11 unrelated families; no mutation was found in the remaining 3 patients from 3 unrelated families. The identified mutations included the mutation reported earlier, with an insertion of one G residue at base 961 in exon 7 (960/961insG) (10 alleles, including 2 alleles in the Japanese family from our previous report [46% of the 22 mutant alleles]), and three novel mutations--a G-->A transition at base 490 in exon 4 (G164S) (3 alleles [14%]), a C-->A transversion at base 530 in exon 4 (A177D) (1 allele [4%]), and a G-->T transversion at base 88 in exon 1 (E30X) (2 alleles [9%]). FBPase proteins with G164S or A177D mutations were enzymatically inactive when purified from E. coli. Another new mutation, a T-->C transition at base 974 in exon 7 (V325A), was found in the same allele with the G164S mutation in one family (one allele) but was not responsible for FBPase deficiency. Our results indicate that the insertion of one G residue at base 961 was associated with a preferential disease-causing alternation in 13 Japanese patients. Our results also indicate accurate carrier detection in eight families (73%) of 11 Japanese patients with FBPase deficiency, in whom mutations in both alleles were identified.
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