دورية أكاديمية
Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report.
| العنوان: | Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report. |
|---|---|
| المؤلفون: | Xin B; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.; College of Pharmacy, Dalian Medical University, Dalian, Liaoning, China., Chen H; Department of Emergency Medicine, Dalian Women and Children's Medical Group, Dalian, Liaoning, China., Liu T; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China., Wu Y; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.; College of Pharmacy, Dalian Medical University, Dalian, Liaoning, China., Hu Q; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.; College of Pharmacy, Dalian Medical University, Dalian, Liaoning, China., Dong X; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.; College of Pharmacy, Dalian Medical University, Dalian, Liaoning, China., Li Z; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China. |
| المصدر: | Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2339. Date of Electronic Publication: 2023 Dec 19. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]- |
| مواضيع طبية MeSH: | Acidosis, Lactic*/genetics , Fructose-1,6-Diphosphatase Deficiency*/diagnosis , Fructose-1,6-Diphosphatase Deficiency*/genetics , Hypoglycemia*/genetics, Male ; Humans ; Child ; Fructose-Bisphosphatase/genetics ; Fructose-Bisphosphatase/metabolism ; Mutation |
| مستخلص: | Background: Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessively inherited metabolic disorder characterized by impaired gluconeogenesis. Due to the rarity of FBPase deficiency, the mechanism by which the mutations cause enzyme activity loss still remains unclear. Methods: We report a pediatric patient with typical FBPase deficiency who presented with hypoglycemia, hyperlactatemia, metabolic acidosis, and hyperuricemia. Whole-exome sequencing was used to search for pathogenic genes, Sanger sequencing was used for verification, and molecular dynamic simulation was used to evaluate how the novel mutation affects FBPase activity and structural stability. Results: Direct and allele-specific sequence analysis of the FBP1 gene (NM_000507) revealed that the proband had a compound heterozygote for the c. 490 (exon 4) G>A (p. G164S) and c. 861 (exon 7) C>A (p. Y287X, 52), which he inherited from his carrier parents. His father and mother had heterozygous G164S and Y287X mutations, respectively, without any symptoms of hypoglycemia. Conclusion: Our results broaden the known mutational spectrum and possible clinical phenotype of FBP1. (© 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.) |
| References: | Åsberg, C., Hjalmarson, O., Alm, J., Martinsson, T., Waldenström, J., & Hellerud, C. (2010). Fructose 1,6-bisphosphatase deficiency: Enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis. Journal of Inherited Metabolic Disease, 33(Suppl 3), S113-S121. Baker, L., & Winegrad, A. I. (1970). Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet (London, England), 2(7662), 13-16. Burlina, A. B., Poletto, M., Shin, Y. S., & Zacchello, F. (1990). Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency. Journal of Inherited Metabolic Disease, 13(3), 263-266. El-Maghrabi, M. R., Lange, A. J., Jiang, W., Yamagata, K., Stoffel, M., Takeda, J., Fernald, A. A., Le Beau, M. M., Bell, G. I., Baker, L., & Pilkis, S. J. (1995). Human fructose-1,6-bisphosphatase gene (FBP1): Exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency. Genomics, 27(3), 520-525. Ergoren, M. C., Tuncel, G., Sag, S. O., & Temel, S. G. (2020). A rare case of fructose-1, 6-bisphosphatase deficiency: A delayed diagnosis story. Turkish Journal of Biochemistry, 45, 613-616. Frischmeyer, P. A., Van Hoof, A., O'Donnell, K., Guerrerio, A. L., Parker, R., & Dietz, H. C. (2002). An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science (New York, N.Y.), 295(5563), 2258-2261. Jian, Z. Y., Tong, L., & Yi, W. (2018). Status epileptics due to fructose-1,6-biophosphatase deficiency caused by FBP1 gene mutation: Case report and review of literature. Chinese Journal of Evidence-Based Pediatrics, 13(3), 219-223. Kamate, M., Jambagi, M., Gowda, P., & Sonoli, S. (2014). Fructose-1,6-diphosphatase deficiency: A treatable neurometabolic disorder. BMJ Case Reports, 2014, bcr2013201553. Kato, S., Nakajima, Y., Awaya, R., Hata, I., Shigematsu, Y., Saitoh, S., & Ito, T. (2015). Pitfall in the diagnosis of Fructose-1,6-Bisphosphatase deficiency: Difficulty in detecting Glycerol-3-phosphate with solvent extraction in urinary GC/MS analysis. The Tohoku Journal of Experimental Medicine, 237(3), 235-239. Kaur, R., Dahiya, L., & Kumar, M. (2017). Fructose-1,6-bisphosphatase inhibitors: A new valid approach for management of type 2 diabetes mellitus. European Journal of Medicinal Chemistry, 141, 473-505. Ke, H. M., Zhang, Y. P., & Lipscomb, W. N. (1990). Crystal structure of fructose-1,6-bisphosphatase complexed with fructose 6-phosphate, AMP, and magnesium. Proceedings of the National Academy of Sciences of the United States of America, 87(14), 5243-5247. Kikawa, Y., Inuzuka, M., Jin, B. Y., Kaji, S., Koga, J. I., Yamamoto, Y., Fujisawa, K., Hata, I., Nakai, A., Shigematsu, Y., Mizunuma, H., Taketo, A., Mayumi, M., & Sudo, M. (1997). Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. American Journal of Human Genetics, 61(4), 852-861. Lebigot, E., Brassier, A., Zater, M., Imanci, D., Feillet, F., Thérond, P., de Lonlay, P., & Boutron, A. (2015). Fructose 1,6-bisphosphatase deficiency: Clinical, biochemical and genetic features in French patients. Journal of Inherited Metabolic Disease, 38(5), 881-887. Li, N., Chang, G., Xu, Y., Ding, Y., Li, G., Yu, T., Qing, Y., Li, J., Shen, Y., Wang, J., & Wang, X. (2017). Clinical and molecular characterization of patients with fructose 1,6-Bisphosphatase deficiency. International Journal of Molecular Sciences, 18(4), 857. Liang, X., Liu, X., Li, W., Zhang, L., Zhang, B., Lai, G., & Zhao, Y. (2023). A novel variant in the FBP1 gene causes fructose-1,6-bisphosphatase deficiency through increased ubiquitination. Archives of Biochemistry and Biophysics, 742, 109619. Lyu, N., Shang, Q., & Ma, C. (2019). Clinical and genetic studies of two cases of fructose-1,6-biophosphatase deficiency caused by FBP1 mutations. Chinese Journal of Practical Pediatrics, 34(10), 854-858. Matsuura, T., Chinen, Y., Arashiro, R., Katsuren, K., Tamura, T., Hyakuna, N., & Ohta, T. (2002). Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. Molecular Genetics and Metabolism, 76(3), 207-210. Mei, S., Ma, C., Cheng, Y., Qian, S., & Jin, Z. (2019). Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused by FBP1 gene mutation. Pediatric Investigation, 3(2), 122-126. Moon, S., Kim, J. H., Han, J. H., Ko, S. H., Ahn, Y. B., Kim, J. H., Yang, S. H., & Song, K. H. (2011). Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis. Metabolism: Clinical and Experimental, 60(1), 107-113. Prahl, P., Christensen, E., Hansen, L., & Mortensen, H. B. (2006). Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia. Ugeskrift for Laeger, 168(46), 4014-4015. Rahil, J. F., De Maine, M. M., & Benkovic, S. J. (1982). Rapid-quench and isotope-trapping studies on fructose-1,6-bisphosphatase. Biochemistry, 21(14), 3358-3363. Richards, S., Aziz, N., Bale, S., Bick, D., das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., Rehm, H. L., & ACMG Laboratory Quality Assurance Committee. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 17(5), 405-424. Sakuma, I., Nagano, H., Hashimoto, N., Fujimoto, M., Nakayama, A., Fuchigami, T., Taki, Y., Matsuda, T., Akamine, H., Kono, S., Kono, T., Yokoyama, M., Nishimura, M., Yokote, K., Ogasawara, T., Fujii, Y., Ogawa, S., Lee, E., Miki, T., & Tanaka, T. (2023). Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency. Communications Biology, 6(1), 787. Shin, Y. S. (1993). Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: Normal leukocyte enzyme activity in three female patients. The Clinical Investigator, 71(2), 115-118. Van Der Spoel, D., Lindahl, E., Hess, B., Groenhof, G., Mark, A. E., & Berendsen, H. J. (2005). Gromacs: Fast, flexible, and free. Journal of Computational Chemistry, 26(16), 1701-1718. Visser, G., Bakker, H., & Jbc, D. K. (2004). Natural history and treatment of fructose-1,6-diphosphatase deficiency in The Netherlands (abstract). Endokrynologia Polska, 73(75), 911-912. |
| معلومات مُعتمدة: | 2019J13SN84 Dalian Science and Technology Bureau |
| فهرسة مساهمة: | Keywords: FBP1 gene; fructose-1,6-bisphosphatase (FBPase) deficiency; hypoglycemia; mutation |
| المشرفين على المادة: | EC 3.1.3.11 (Fructose-Bisphosphatase) |
| تواريخ الأحداث: | Date Created: 20231219 Date Completed: 20240130 Latest Revision: 20240130 |
| رمز التحديث: | 20240130 |
| مُعرف محوري في PubMed: | PMC10767684 |
| DOI: | 10.1002/mgg3.2339 |
| PMID: | 38111981 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2324-9269 |
|---|---|
| DOI: | 10.1002/mgg3.2339 |