Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report
Abstract Background Fructose-1,6-bisphosphatase deficiency is a rare autosomal recessive disorder characterized by impaired gluconeogenesis. Fructose-1,6-bisphosphatase 1 (FBP1) mutations demonstrate ethnic patterns. For instance, Turkish populations commonly harbor exon 2 deletions. We present a ca...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-04-01
|
| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-024-04448-9 |
| _version_ | 1797209380377067520 |
|---|---|
| author | Maher Almousa Mohammad Aljomaa Shekhey Hamey Diana Alasmar |
| author_facet | Maher Almousa Mohammad Aljomaa Shekhey Hamey Diana Alasmar |
| author_sort | Maher Almousa |
| collection | DOAJ |
| description | Abstract Background Fructose-1,6-bisphosphatase deficiency is a rare autosomal recessive disorder characterized by impaired gluconeogenesis. Fructose-1,6-bisphosphatase 1 (FBP1) mutations demonstrate ethnic patterns. For instance, Turkish populations commonly harbor exon 2 deletions. We present a case report of whole exon 2 deletion in a Syrian Arabian child as the first recording of this mutation among Arabian ethnicity and the first report of FBP1 gene mutation in Syria. Case presentation We present the case of a 2.5-year-old Syrian Arab child with recurrent hypoglycemic episodes, accompanied by nausea and lethargy. The patient’s history, physical examination, and laboratory findings raised suspicion of fructose-1,6-bisphosphatase deficiency. Whole exome sequencing was performed, revealing a homozygous deletion of exon 2 in the FBP1 gene, confirming the diagnosis. Conclusion This case highlights a potential novel mutation in the Arab population; this mutation is well described in the Turkish population, which suggests potential shared mutations due to ancestral relationships between the two ethnicities. Further studies are needed to confirm this finding. |
| first_indexed | 2024-04-24T09:53:47Z |
| format | Article |
| id | doaj.art-e9d938dc2f764727aec0fd4253db4ec0 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-04-24T09:53:47Z |
| publishDate | 2024-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-e9d938dc2f764727aec0fd4253db4ec02024-04-14T11:17:25ZengBMCJournal of Medical Case Reports1752-19472024-04-011811410.1186/s13256-024-04448-9Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case reportMaher Almousa0Mohammad Aljomaa1Shekhey Hamey2Diana Alasmar3Faculty of Medicine, Hama UniversityDepartment of Gastroenterology, Aleppo University Hospital, University of AleppoFaculty of Medicine, Damascus UniversityDepartment of Pediatrics, University Children Hospital, Damascus UniversityAbstract Background Fructose-1,6-bisphosphatase deficiency is a rare autosomal recessive disorder characterized by impaired gluconeogenesis. Fructose-1,6-bisphosphatase 1 (FBP1) mutations demonstrate ethnic patterns. For instance, Turkish populations commonly harbor exon 2 deletions. We present a case report of whole exon 2 deletion in a Syrian Arabian child as the first recording of this mutation among Arabian ethnicity and the first report of FBP1 gene mutation in Syria. Case presentation We present the case of a 2.5-year-old Syrian Arab child with recurrent hypoglycemic episodes, accompanied by nausea and lethargy. The patient’s history, physical examination, and laboratory findings raised suspicion of fructose-1,6-bisphosphatase deficiency. Whole exome sequencing was performed, revealing a homozygous deletion of exon 2 in the FBP1 gene, confirming the diagnosis. Conclusion This case highlights a potential novel mutation in the Arab population; this mutation is well described in the Turkish population, which suggests potential shared mutations due to ancestral relationships between the two ethnicities. Further studies are needed to confirm this finding.https://doi.org/10.1186/s13256-024-04448-9Fructose-1,6-bisphosphatase deficiencyGluconeogenesisFBP1 geneNovel mutationArab populationCase report |
| spellingShingle | Maher Almousa Mohammad Aljomaa Shekhey Hamey Diana Alasmar Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report Journal of Medical Case Reports Fructose-1,6-bisphosphatase deficiency Gluconeogenesis FBP1 gene Novel mutation Arab population Case report |
| title | Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report |
| title_full | Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report |
| title_fullStr | Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report |
| title_full_unstemmed | Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report |
| title_short | Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report |
| title_sort | documentation of a novel fbp1 gene mutation in the arabian ethnicity a case report |
| topic | Fructose-1,6-bisphosphatase deficiency Gluconeogenesis FBP1 gene Novel mutation Arab population Case report |
| url | https://doi.org/10.1186/s13256-024-04448-9 |
| work_keys_str_mv | AT maheralmousa documentationofanovelfbp1genemutationinthearabianethnicityacasereport AT mohammadaljomaa documentationofanovelfbp1genemutationinthearabianethnicityacasereport AT shekheyhamey documentationofanovelfbp1genemutationinthearabianethnicityacasereport AT dianaalasmar documentationofanovelfbp1genemutationinthearabianethnicityacasereport |