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首页> 外文期刊>Genetic testing and molecular biomarkers >The p.Arg258Gly Mutation in Intracellular Loop 2 of CFTR is Associated with CFTR-Related Disorders
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The p.Arg258Gly Mutation in Intracellular Loop 2 of CFTR is Associated with CFTR-Related Disorders

机译：p.Arg258Gly突变细胞内循环2雌性生殖道的跟CFTR-Related紊乱有关

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摘要

Missense mutations account for approximately 50% of the mutations described in the CFTR gene. However, their proportion is higher in CFTR-related disorders (CFTR-RD) than in cystic fibrosis (CF), suggesting a different mutational spectrum. The uncertainty surrounding many of these mutations prevents suitable genetic counseling. Thus, it is crucial to determine whether a missense mutation has clinical expression, and if it does, to then define the associated phenotype. Herein we have assessed the phenotype associated with the p.Arg258Gly (R258G) mutation, checking our cohorts of patients (CF and CFTR-RD) and control subjects (CF carriers, fertile males, and general population). We also performed in silico predictive studies on the possible consequences of this mutation at the protein level. Lastly, we exhaustively reviewed the literature on this mutation. To date, R258G has only been found in six patients: a French congenital bilateral absence of vas deferens patient, reported in 1995 and five unrelated subjects from our cohort of non-CF patients, described here. Based on these findings, we postulate that R258G is primarily a CFTR-RD-associated mutation.
机译：错义突变占大约50%CFTR突变描述的检测基因。然而,他们的比例更高CFTR-related障碍(CFTR-RD)囊性纤维化(CF),表明不同的突变光谱。这些突变阻止合适的基因咨询。一个错义突变是否有临床表达式,如果是这样,然后定义相关的表型。表型与p.Arg258Gly (R258G)突变,检查我们的群病人(CF和CFTR-RD)和对照组(CF运营商,肥沃的男性,和一般人群)。在网上进行预测研究这种突变的可能后果蛋白质水平。这种突变的文学。只有在六名病人被发现:一个法国人吗两国没有先天性输精管病人,1995年报告和五个无关从我们的群non-CF病人受试者,这里描述。假定R258G主要是CFTR-RD-associated突变。

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