Mild cystic fibrosis in patients with the rare P5L CFTR mutation

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• 作者：Lucia Spicuzza^a ; ^{luciaspicuzza@tiscali.it} ; Concetta Sciuto^a ; Lucia Di Dio^b ; Teresa Mattina^b ; Salvatore Leonardi^a ; Michele Miraglia del Giudice^c ; Mario La Rosa^a
• 关键词：Cystic fibrosis ; CFTR ; P5L
• 刊名：Journal of Cystic Fibrosis
• 出版年：2012
• 出版时间：January 2012
• 年：2012
• 卷：11
• 期：1
• 页码：30-33
• 全文大小：107 K

文摘

Over 1800 Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) mutations have been identified so far, determining different degrees of CFTR dysfunction and a range of different cystic fibrosis phenotypes. The P5L CFTR mutation is a recently described N-terminus missense variant which may cause defect of protein folding and processing/trafficking, but the functional classification is still unclear. Given the rarity of the mutation, the associated clinical phenotype is still unknown. The aim of our study was to describe the clinical phenotypes in a group of 7 patients with the P5L mutation including 2 adults, 2 adolescents and 3 children. The P5L variant was associated with ¦¤F508 in 5 patients and with W1282X in two patients.

All patients had positive or borderline sweat test values. All had pancreatic sufficiency, no hepatobiliary disease, no or mild respiratory symptoms and normal lung function. The two adult males were fertile. Most of the patients presented recurrent episodes of dehydration and hypochloronatremia.

We conclude that, although it has been speculated that the N-terminus CFTR missense variants may severely affect the behaviour of the CFTR chloride channel, patients with the P5L CFTR mutation, in association with a severe class II mutation, may be asymptomatic or may be affected by mild disease.