在两名患有次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症（神经病变型）的阿根廷非亲缘患者中发现一种新的错义突变，即c.584A > C（Y195S）。
A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant.
作者信息
Laróvere L E, Romero N, Fairbanks L D, Conde C, Guelbert N, Rosa A L, de Kremer R Dodelson
机构信息
Centro de Estudio de las Metabolopatías Congénitas, Cátedra de Clínica Pediátrica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.
出版信息
Mol Genet Metab. 2004 Apr;81(4):352-4. doi: 10.1016/j.ymgme.2004.01.013.
The hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is an inborn error of purine metabolism, responsible for classic Lesch-Nyhan disease and its neurological and hyperuricemic variants. We report a novel mutation in the HPRT gene, c.584A > C (Y195S), in two unrelated Argentine patients affected with the neurological variant with no HPRT activity in lysed erythrocytes. Using PCR plus DNA sequencing and/or restriction enzyme digestion we were able to confirm the diagnosis and identify new cases and potential carriers.
次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症是一种嘌呤代谢的先天性缺陷，是典型的莱施 - 奈恩病及其神经学和高尿酸血症变体的病因。我们报告了HPRT基因中的一个新突变，c.584A>C（Y195S），该突变存在于两名不相关的阿根廷患者中，他们患有神经学变体，其裂解红细胞中无HPRT活性。通过聚合酶链反应（PCR）加上DNA测序和/或限制性酶切，我们能够确诊并识别新病例和潜在携带者。
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