Hirano M, Tamaru Y, Ito H, Matsumoto S, Imai T, Ueno S
Department of Medical Genetics, Nara Medical University, Japan.
Ann Neurol. 1996 Nov;40(5):796-8. doi: 10.1002/ana.410400517.
We present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia. The affected daughter and her asymptomatic father are heterozygous for a novel missense mutation that replaces His by Pro at codon 144 in the GTP cyclohydrolase I gene. Quantitative reverse transcription-polymerase chain reaction revealed a higher ratio of mutant/normal mRNA encoding GTP cyclohydrolase I in the patient. These results demonstrate the importance of mutant mRNA levels for phenotypic variability among cases with the same mutation.
我们报告了一个新的患有遗传性进行性肌张力障碍且伴有明显日波动/多巴反应性肌张力障碍的日本家庭。患病女儿及其无症状父亲在GTP环化水解酶I基因第144密码子处存在一个新的错义突变，该突变使组氨酸被脯氨酸取代，二者均为杂合子。定量逆转录-聚合酶链反应显示，患者中编码GTP环化水解酶I的突变型/正常型mRNA比例更高。这些结果证明了突变型mRNA水平对于具有相同突变的病例之间表型变异性的重要性。
