Voskoboeva Elena, Semyachkina Alla, Yablonskaya Maria, Nikolaeva Ekaterina
Research Centre for Medical Genetics, Moscow, Russia.
Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.
Mol Genet Metab Rep. 2017 Dec 27;14:47-54. doi: 10.1016/j.ymgmr.2017.11.001. eCollection 2018 Mar.
We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the gene for thirteen patients from eleven unrelated genealogies. All patients except for the two were compound heterozygotes for the mutations detected. The most frequent mutation in the cohort investigated was splice mutation IVS11-2a->c. We detected one new nonsense mutation, one new missense-mutation and three novel small deletions. We also report the clinical case of the B-responsive patient genotyped as Ile278Thr/Cys109Arg.
我们展示了对27名俄罗斯同型胱氨酸尿症患者进行45年临床观察的结果。我们对来自11个无关家系的13名患者的基因进行了突变分析。除两名患者外，所有患者均为检测到的突变的复合杂合子。在所研究的队列中，最常见的突变是剪接突变IVS11-2a->c。我们检测到一个新的无义突变、一个新的错义突变和三个新的小缺失。我们还报告了基因型为Ile278Thr/Cys109Arg的对维生素B有反应的患者的临床病例。
