Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability
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DOI：
10.1007/s00431-014-2449-5
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发表时间：
2015-05-01
影响因子：
3.6
通讯作者：
Al-Jasmi, Fatma
中科院分区：
文献类型：
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作者：
Al-Shamsi, Aisha M.;Ben-Salem, Salma;Al-Jasmi, Fatma
转醛醇酶缺乏症是一种异质性碳水化合物代谢障碍，临床特征为畸形特征、皮肤拉克萨、肝脾肿大、肝纤维化、全血细胞减少、肾脏和心脏异常以及多元醇的尿排泄。本报告描述了四名阿联酋患者转醛醇酶缺乏症引起的纯合子p.R192C错义突变TALDO1显示广泛的表型变异。患者具有不同的临床表现，包括肝脾肿大、全血细胞减少、肝功能衰竭、蛋白尿、胎儿水肿、心肌病和皮肤表现（例如，干燥、皮肤拉克萨、鱼鳞病、毛细血管扩张和血管瘤）。生化分析，包括尿中多元醇的浓度与转醛醇酶缺乏症一致。突变p.R192C以前被确定在一个阿拉伯病人，这表明创始人效应在阿拉伯population.Conclusion：上述研究结果支持的前提下，在TALDO1的双等位基因突变是负责转醛醇酶缺乏症，并确认广泛的表型变异的这种情况下，即使具有相同的基因型。
Transaldolase deficiency is a heterogeneous disorder of carbohydrate metabolism characterized clinically by dysmorphic features, cutis laxa, hepatosplenomegaly, hepatic fibrosis, pancytopenia, renal and cardiac abnormalities, and urinary excretion of polyols. This report describes four Emirati patients with transaldolase deficiency caused by the homozygous p.R192C missense mutation in TALDO1 displaying wide phenotypic variability. The patients had variable clinical presentations including hepatosplenomegaly, pancytopenia, liver failure, proteinuria, hydrops fetalis, cardiomyopathy, and skin manifestations (e.g., dryness, cutis laxa, ichthyosis, telangiectasias, and hemangiomas). Biochemical analyses including urinary concentration of polyols were consistent with transaldolase deficiency. The mutation p.R192C was previously identified in an Arab patient, suggesting a founder effect in Arab populations.Conclusion: The above findings support the premise that biallelic mutations in TALDO1 are responsible for transaldolase deficiency and confirm the broad phenotypic variability of this condition, even with the same genotype.