BACKGROUND The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population. METHODS A longitudinal CFTR screening of 1279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient's blood. RESULTS One patient out of 16 was a carrier of a CFTR mutation. Twenty-four mutations were found. Theoretically one couple out of 256 was at risk of CF transmission. CONCLUSIONS The risk of CF transmission is unexpectedly high in Sicily and with a high heterogeneity. Sequencing an entire and long gene such as CFTR makes accessible the true panel of mutations in a specific population and helps better to understand the true risk of having an affected child.

中文翻译：

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西西里人的囊性纤维化突变的真实面目。

背景技术目的是确定在西西里不育人群中患有囊性纤维化（CF）患儿的真实风险。方法从患者血液中对1279名西西里不育症患者进行CFTR纵向筛查，以筛查所有CFTR突变，并通过下一代测序（NGS）对整个基因进行测序。结果16名患者中有1名患者携带CFTR突变。发现二十四个突变。从理论上讲，256个中的一对有CF传播的危险。结论在西西里，CF传播的风险出乎意料地高，并且异质性很高。对一个完整的长基因（如CFTR）进行测序，可以访问特定人群中真正的突变组，并有助于更好地了解生下患病儿童的真正风险。