R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series

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• 作者：Seiichi Villalona ; Guillermo Glover-López…
• 关键词：CFTR ; Missense mutation ; Genotype ; phenotype ; Congenital absence of vas deferens
• 刊名：Journal of Medical Case Reports
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：11
• 期：1
• 全文大小：552KB
• 刊物主题：Medicine/Public Health, general; General Practice / Family Medicine; Public Health; Primary Care Medicine;
• 出版者：BioMed Central
• ISSN：1752-1947
• 卷排序：11

文摘

BackgroundMutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such mutations. Reporting cystic fibrosis transmembrane conductance regulator mutations is important in understanding the genotype-phenotype correlations and associated clinical presentations in patients with cystic fibrosis. Understanding the effects of mutations is critical in developing appropriate treatments for individuals affected with cystic fibrosis, non-classic cystic fibrosis, or cystic fibrosis transmembrane conductance regulator-related disorders. This is the first report of related individuals possessing the R248G missense cystic fibrosis transmembrane conductance regulator mutation and we present their associated clinical histories.