Culic Vida, Betz Regina C, Refke Melanie, Fumic Ksenija, Pavelic Jasminka
University Hospital Split, Department of Pediatrics, Division for Medical Genetics, Spinčićeva 1, 21000 Split, Croatia.
Eur J Med Genet. 2011 May-Jun;54(3):205-8. doi: 10.1016/j.ejmg.2010.11.013. Epub 2010 Dec 9.
In the present study we report the clinical features and the molecular genetic investigation of the tyrosine aminotransferase (TAT) gene in a young girl from Croatia with Richner-Hanhart syndrome, mainly suffering from photophobia, hyperkeratosis of the palmes and soles and slight neurological abnormalities. Sequencing analysis of the TAT gene revealed a novel homozygous missense mutation c.1250G>A (p.R417Q) in exon 12, and herewith confirmed the clinical diagnosis. Showing the first symptoms in babyhood, at the age of 8 years it was for the first time clinically diagnosed that the patient suffers from tyrosinemia type II and a therapy with tyrosine and phenylalanine reduced diet has been started successfully. All symptoms disappeared within 2-4 weeks. Since that time, we have been following the girl until today for more than ten years. She is in a good condition, and attends the normal high school program.
在本研究中，我们报告了一名来自克罗地亚的患有Richner-Hanhart综合征的年轻女孩的临床特征以及酪氨酸转氨酶（TAT）基因的分子遗传学研究情况。该女孩主要表现为畏光、手掌和足底角化过度以及轻微的神经异常。TAT基因的测序分析显示，外显子12存在一个新的纯合错义突变c.1250G>A（p.R417Q），从而证实了临床诊断。该患者在婴儿期首次出现症状，8岁时首次被临床诊断为患有II型酪氨酸血症，并成功开始了酪氨酸和苯丙氨酸限制饮食的治疗。所有症状在2至4周内消失。从那时起，我们一直对该女孩进行了十多年的随访。她状况良好，正在正常上高中。
