PDF(Pubmed)
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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：果糖-1,6-双磷酸酶缺乏症是一种罕见的常染色体隐性遗传疾病，其特征是糖异生受损。果糖-1,6-双磷酸酶1（FBP1）突变显示出种族模式。例如,土耳其人口通常藏有外显子2缺失。我们提供了一个叙利亚阿拉伯儿童全外显子2缺失的病例报告，这是阿拉伯种族中这种突变的首次记录，也是叙利亚FBP1基因突变的首次报告。
方法：我们介绍了一名2.5岁的阿拉伯叙利亚儿童反复出现低血糖的情况，伴有恶心和嗜睡。病人的病史,体检,和实验室发现怀疑果糖-1,6-双磷酸酶缺乏症。进行了全外显子组测序，显示FBP1基因中外显子2的纯合缺失，确认诊断。
结论：这个案例突出了阿拉伯人口中潜在的新突变；这种突变在土耳其人口中有很好的描述，这表明由于两个种族之间的祖先关系，潜在的共有突变。需要进一步的研究来证实这一发现。
方法：我们介绍了一名2.5岁的阿拉伯叙利亚儿童反复出现低血糖的情况，伴有恶心和嗜睡。病人的病史,体检,和实验室发现怀疑果糖-1,6-双磷酸酶缺乏症。进行了全外显子组测序，显示FBP1基因中外显子2的纯合缺失，确认诊断。
结论：这个案例突出了阿拉伯人口中潜在的新突变；这种突变在土耳其人口中有很好的描述，这表明由于两个种族之间的祖先关系，潜在的共有突变。需要进一步的研究来证实这一发现。
