Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K)
| Autor: | Ratna Dua Puri, Ishwar Chander Verma, Vivek Jain, Rajeev K. Bansal, Anil Sachdev, Dhiren Gupta, Tapisha G. Kumar, Vyomesh Vyas, Deepti Gupta, Pratibha Bhai, Udhaya Kotecha, Renu Saxena, Sunita Bijarnia-Mahay, Divya Agarwal |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Fructose-1 6-Diphosphatase Deficiency Male Genetic counseling India Prenatal diagnosis Bioinformatics medicine.disease_cause Polymorphism Single Nucleotide 03 medical and health sciences Prenatal Diagnosis Genetics medicine Humans Genetic Testing Genetics (clinical) Genetic testing Mutation medicine.diagnostic_test business.industry FBP1 Infant Newborn Infant Metabolic acidosis medicine.disease Fructose-Bisphosphatase 030104 developmental biology Liver biopsy Child Preschool Hyperlactatemia Female business |
| Zdroj: | Annals of human geneticsREFERENCES. 82(5) |
| ISSN: | 1469-1809 |
| Popis: | Fructose-1, 6-bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by episodic, often life-threatening metabolic acidosis, liver dysfunction, and hyperlactatemia. Without a high index of suspicion, it may remain undiagnosed with devastating consequences. Accurate diagnosis can be achieved either by enzyme assay or gene studies. Enzyme assay requires a liver biopsy and is tedious, invasive, expensive, and not easily available. Therefore, genetic testing is the most appropriate method to confirm the diagnosis. Molecular studies were performed on 18 suspected cases presenting with episodic symptoms. Seven different pathogenic variants were identified. Two common variants were noted in two subpopulations from the Indian subcontinent; p.Glu281Lys (E281K) occurred most frequently (in 10 patients) followed by p.Arg158Trp (R158W, in 4 patients). Molecular analysis confirmed the diagnosis and helped in managing these patients by providing appropriate genetic counseling. In conclusion, genetic studies identified two common variants in the Indian subcontinent, thus simplifying the diagnostic algorithm in this treatable disorder. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text