De Lucca M, Barba C, Casique L
Laboratorio de Biología Molecular y Celular, Universidad Técnica de Ambato, Ambato, Ecuador.
Laboratorio de Biología Molecular y Celular, Universidad Técnica de Ambato, Ambato, Ecuador.
Clin Chim Acta. 2017 Jul;470:20-23. doi: 10.1016/j.cca.2017.04.021. Epub 2017 Apr 24.
Classic Galactosemia (OMIM 230400) is an autosomal recessive disorder of galactose metabolism caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. This disease caused by the inability to metabolize galactose is potentially life-threatening but its pathophysiology has not been clearly defined. GALT gene presents high allelic heterogeneity and around 336 variations have been identified. Here, we report the case of a patient with Classic Galactosemia who was detected during a neonatal screening in Ecuador. Molecular study revealed a mutation in GALT gene intron 1, c.82+3A>G in homozygous condition, this mutation has not been previously reported. This gene variation was not found in any of the 119 healthy Ecuadorian individuals used as control. Furthermore, the mutation was the only alteration detected in the propositus's GALT after sequencing all exons and introns of this gene. In silico modeling predicted that the mutation was pathogenic.
经典型半乳糖血症（OMIM 230400）是一种常染色体隐性半乳糖代谢紊乱疾病，由半乳糖-1-磷酸尿苷酰转移酶（GALT）基因突变引起。这种因无法代谢半乳糖而导致的疾病具有潜在生命危险，但其病理生理学尚未明确界定。GALT基因存在高度等位基因异质性，已鉴定出约336种变异。在此，我们报告一例在厄瓜多尔新生儿筛查期间检测出的经典型半乳糖血症患者。分子研究显示，GALT基因内含子1存在一个纯合突变c.82+3A>G，此突变此前未见报道。在用作对照的119名健康厄瓜多尔个体中均未发现该基因变异。此外，在对该患者的GALT基因所有外显子和内含子进行测序后发现，此突变是唯一检测到的改变。计算机模拟预测该突变具有致病性。
