Kosztolányi G, Malik N, Rutishauser M
Department of Genetics, University Children's Hospital, Basel, Switzerland.
Clin Genet. 1996 Feb;49(2):103-5. doi: 10.1111/j.1399-0004.1996.tb04338.x.
A woman with unusually mild cystic fibrosis (CF) and normal sweat chloride levels is reported to have delta F508 deletion on one CF chromosome and the rare mutation R347H on the other, the first known female with this mutation. Of the other eight cases with R347H mutation mentioned in the literature, all five patients whose age and sex were given in the reports were men and had congenital bilateral absence of vas deferens (CBAVD). Considering these data, it is not unrealistic to assume that R347H associates more frequently than other CF mutations with CBAVD, which would mean that the clinical significance of this mutation might differ in males and females.
据报道，一名患有异常轻度囊性纤维化（CF）且汗液氯化物水平正常的女性，其一条CF染色体上有ΔF508缺失，另一条上有罕见突变R347H，这是首例已知携带此突变的女性。文献中提到的其他8例R347H突变病例中，报告中给出年龄和性别的所有5名患者均为男性，且患有先天性双侧输精管缺如（CBAVD）。考虑到这些数据，假设R347H比其他CF突变更频繁地与CBAVD相关联并非不切实际，这意味着该突变的临床意义在男性和女性中可能有所不同。
