Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency

Matsuura, Toshinobu; Chinen, Yoshiaki; Arashiro, Rina; Katsuren, Keisuke; Tamura, Toshiya; Hyakuna, Nobuyuki; Ohta, Takao

doi:10.1016/s1096-7192(02)00038-0

Cited by 22 publications

(18 citation statements)

References 15 publications

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“…Other mutations, which have been described in FBP deficiency patients, encode for stop codons, frame shifts, missense changes, and exon 1 deletion [7,8,10,11,14]. The c. 117_118insACCTGC encoding for p.Cys39_Thr40dup is the only amino acid duplication that has been identified in FBP deficiency patients.…”

Section: Discussionmentioning

confidence: 99%

“…This disease is often fatal in the neonatal period and infancy. FBP deficiency is caused by mutations in the FBP1 gene, which encodes for fructose-1,6-bisphosphatase 1 (FBP1) [7,8,10,11,14,19]. FBP1 is a key regulator of gluconeogenesis, during which it catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate.…”

Section: Introductionmentioning

confidence: 99%

“…In another study, it was suggested that hypoglycemia in nine Arab patients was due to FBP deficiency [21]. Mutations in the FBP1 gene have been reported in Japanese, Asian, European, North American, and Moroccan patients [7,8,10,11,14,19], but not in Arab patients.…”

Section: Introductionmentioning

confidence: 99%

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Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency

et al. 2009

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency

et al. 2009

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“…The FBPase enzyme is mainly expressed in the liver and kidney, two distinct genes, FBP1 and FBP2 , which encode human FBPase [2]. The FBP1 gene (OMIM#611570), which is mainly expressed in liver tissues, is located on 9q22.3 and consists of seven exons that encode 338 amino acids [3].…”

Section: Introductionmentioning

confidence: 99%

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency

Niu

Chang

et al. 2017

IJMS

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Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, autosomal recessive inherited disease caused by the mutation of the FBP1 gene, the incidence is estimated to be between 1/350,000 and 1/900,000. The symptoms of affected individuals are non-specific and are easily confused with other metabolic disorders. The present study describes the clinical features of four Chinese pediatric patients who presented with hypoglycemia, hyperlactacidemia, metabolic acidosis, and hyperuricemia. Targeted-next generation sequencing using the Agilent SureSelect XT Inherited Disease Panel was used to screen for causal variants in the genome, and the clinically-relevant variants were subsequently verified using Sanger sequencing. Here, DNA sequencing identified six variations of the FBP1 gene (NM_000507.3) in the four patients. In Case 1, we found a compound heterozygous mutations of c.704delC (p.Pro235GlnfsX42) (novel) and c.960_961insG (p.Ser321Valfs) (known pathogenic). In Case 2, we found a compound heterozygous mutations of c.825 + 1G>A and c.960_961insG (both were known pathogenically). In Case 3, a homozygous missense mutation of c.355G>A (p.Asp119Asn) (reported in ClinVar database without functional study) was found. Case 4 had a compound heterozygous mutations c.720_729del (p.Tyr241GlyfsX33) (novel) and c.490G>A (p.Gly164Ser) (known pathogenically). Further in vitro studies in the COS-7cell line demonstrated that the mutation of ASP119ASN had no impact on protein expression, but decreased the enzyme activity, and with which the clinical significance of Asp119Asn can be determined to be likely pathogenic. This report not only expands upon the known spectrum of variation of the FBP1 gene, but also deepens our understanding of the clinical features of FBPase deficiency.

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“…Human FBP-1,6 is coded in 2 distinct genes, FBP1 and FBP2 (Matsuura et al, 2002). FBP1 consist of seven exons and spans over 31 kilobases at chromosome 9q22.2-q22.3 and expresses a 362-amino acid (el-Maghrabi et al, 1995).…”

Section: Genetics and Localization Of The Fbp-16 Isozymes In Human Tmentioning

confidence: 99%

Urinary Fructose-1,6-Bisphosphatase (FBP-1,6) and N-Acetyl-β-Hexosaminidase (HEX) in Monitoring Kidney Transplantation - Literature Review

Kępka¹,

Szajda²,

Waszkiewicz³

et al. 2011

Kidney Transplantation - New Perspectives

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Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency

Cited by 22 publications

References 15 publications

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency

Urinary Fructose-1,6-Bisphosphatase (FBP-1,6) and N-Acetyl-β-Hexosaminidase (HEX) in Monitoring Kidney Transplantation - Literature Review

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