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首页> 外文期刊>Case Reports in Genetics >Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis
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Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis

机译：偶然发现纯合的p.M348K无症状意大利患者证实了囊性纤维化的许多面孔

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Cystic fibrosis (CF; OMIM number 219700) is an autosomal recessive disease caused by mutations in theCFTR(cystic fibrosis transmembrane conductance regulator) gene, which results in abnormal viscous mucoid secretions in multiple organs and whose main clinical features are pancreatic insufficiency, chronic endobronchial infection, and male infertility. We report the case of a 47-year-old apparently normal male resulting in homozygosity for the mutation p.M348K from nonconsanguineous parents. The proband was screened using a standard panel of 70 different tested on NanoChip 400 platform. The massive parallel pyrosequencing on 454 JS machine allowed the second level analysis. The patient was firstly screened with two different platforms available in our laboratory, obtaining an ambiguous signal for the p.R347P mutation. For this reason we decided to clarify the discordant result ofCFTRstatus by Next Generation Sequencing (NGS) using 454 Junior instrument. The patient is resulted no carrier of the p.R347P mutation, but NGS highlighted a homozygous substitution from T>A at position 1043 in the coding region, causing an amino acid substitution from methionine to lysine (p.M348K). Casual finding of p.M348K homozygote mutation in an individual, without any feature of classical or nonclassical CF form, allowed us to confirm that p.M348K is a benign rare polymorphism.
机译：囊性纤维化（CF; OMIM编号219700）是由CFTR（囊性纤维化跨膜电导调节剂）基因突变引起的常染色体隐性遗传疾病，可导致多个器官粘液黏液分泌异常，其主要临床特征是胰腺功能不全，慢性支气管内感染和男性不育。我们报告的情况下，来自非亲缘父母的p.M348K突变导致纯合性的47岁看似正常的男性。使用在NanoChip 400平台上测试的70种不同的标准面板筛选了先证者。在454 JS机器上进行大规模并行焦磷酸测序可进行第二级分析。首先用我们实验室中可用的两个不同平台筛选患者，获得p.R347P突变的模糊信号。因此，我们决定使用454 Junior仪器通过下一代测序（NGS）阐明CFTRstatus的不一致结果。该患者没有携带p.R347P突变的携带者，但NGS突出显示了编码区中第1043位从T> A进行的纯合替换，从而导致了蛋氨酸到赖氨酸的氨基酸替换（p.M348K）。偶然发现p.M348K纯合子突变，没有任何经典或非经典CF形式的特征，使我们能够确认p.M348K是良性的罕见多态性。

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