| Autor: |
Merve, Emecen Sanli, Basak, Cengiz, Ayse, Kilic, Ekin, Ozsaydi, Asli, Inci, Ilyas, Okur, Leyla, Tumer, Elise, Lebigot, Fatih, Ezgu |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Journal of pediatric endocrinologymetabolism : JPEMReferences. 35(4) |
| ISSN: |
2191-0251 |
| Popis: |
Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded byIn this study, we describe the clinical, biochemical, and molecular genetic features of six unrelated Turkish patients from six different families who were genetically diagnosed with FBPase deficiency in our clinic between 2008 and 2020. Their clinical and laboratory data were collected retrospectively. Next-generation sequencing (NGS) was performed for the molecular genetic analysis.All patients were hospitalized with recurrent hypoglycemia and metabolic acidosis episodes. Three out of six patients were presented in the neonatal period. The mean age at diagnosis was 26 months. NGS revealed a known homozygous gross deletion including exon 2 in three patients (50%), a known homozygous c.910_911dupTT pathogenic variant in one patient (16%), a novel homozygous c.651_653delCAGinsTAA likely pathogenic variant, and another novel homozygous c.705+5GA splice site variant. Leukocyte FBPase analysis detected no enzyme activity in the patient with homozygous c.705+5GA splice site variant.We identified two novel mutations in this study. One of them is a splice site mutation which is five bases downstream of the exon, and the other one is an indel mutation. Both of the splice site and indel mutations are exceedingly rare in |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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