Salvi S, Dionisi-Vici C, Bertini E, Verardo M, Santorelli F M
Molecular Medicine, IRCCS-Bambino Gesù, Rome; Italy.
Hum Mutat. 2001 Nov;18(5):460. doi: 10.1002/humu.1221.
Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene. Seven novel mutations were identified (Q89X, G27R, G190D, R275Q, c.861insG, c.164insA, and IVS5+1G-->A). Other previously described variants were a heterozygous deletion of a phenylalanine residue (F188del) in one allele and the R179X in two. The G27R mutation was carried by two patients. Analyses of ORNT1 mRNA in four patients showed that mutant alleles were stable and of the predicted size. The current study expands the spectrum of mutations in ORNT1 gene.
对8名患有高鸟氨酸血症、高氨血症和同型瓜氨酸尿症（HHH）综合征的不相关意大利患者进行了ORNT1基因突变分析。鉴定出7种新突变（Q89X、G27R、G190D、R275Q、c.861insG、c.164insA和IVS5+1G→A）。其他先前描述的变体为一个等位基因中苯丙氨酸残基的杂合缺失（F188del）和两个等位基因中的R179X。两名患者携带G27R突变。对4名患者的ORNT1 mRNA分析表明，突变等位基因稳定且大小符合预测。本研究扩展了ORNT1基因的突变谱。
