Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population

Mutations of two genes, the cystic fibrosis transmembrane conductance regulator gene (CFTR) and the pancreatic secretory trypsin inhibitor gene (PSTI), are associated with an increase in the risk of idiopathic chronic pancreatitis. Persons who have mutations of bothCFTRalleles (one severely and one mildly affected) are especially susceptible to this disease. Because these compound heterozygotes have sufficient residualCFTRfunction, they do not develop cystic fibrosis lung disease. OnePSTImutation, N34S, independently increases the risk of pancreatitis. Thus, the risk of pancreatitis is greatest among individuals who areCFTRcompound heterozygotes and who also have thePSTImutation. Nonetheless, most people withCFTRandPSTImutations do not develop pancreatitis. This fact indicates that environmental influences and gene-gene interactions also affect pancreatitis risk. AlthoughCFTRandPSTIgenetic testing can identify persons at an increased risk of pancreatitis, there are several reasons why the routine screening of individuals with nonhereditary pancreatitis is not recommended at this time: most disease-associated mutations are not detected by readily available techniques, genetic counselling guidelines do not exist, most patients with mutations do not develop pancreatitis and the results of testing do not affect the clinical management of pancreatitis.

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M470V polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and male infertility

European Urology Supplements ◽

10.1016/s1569-9056(17)32139-5 ◽

2017 ◽

Vol 16 (13) ◽

pp. e3011 ◽

Cited By ~ 1

Author(s):

A. Gokce ◽

D. Gul ◽

F. Halis ◽

H.I. Cimen

Keyword(s):

Cystic Fibrosis ◽

Male Infertility ◽

Cftr Gene ◽

Transmembrane Conductance Regulator ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

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The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis

Case Reports in Medicine ◽

10.1155/2011/903910 ◽

2011 ◽

Vol 2011 ◽

pp. 1-4

Author(s):

Kate H. Cole ◽

Patrick R. Sosnay ◽

Lonny B. Yarmus ◽

Jonathan B. Zuckerman

Keyword(s):

Cystic Fibrosis ◽

Genetic Testing ◽

Delayed Diagnosis ◽

Late Complications ◽

Transmembrane Conductance Regulator ◽

The Novel ◽

Transmembrane Conductance ◽

Respiratory Compromise ◽

Mild Phenotype ◽

Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is an autosomal recessive disease that may be caused by more than 1000 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We describe the case of a CF patient who was initially diagnosed at 16 years of age after presenting with mild respiratory compromise and pancreatic sufficiency. When genetic testing was first performed using a CF mutation panel, only a single F508del CFTR allele was identified. We subsequently performed testing, which revealed a previously unreported mutation: A457P (p.Ala457Pro, c.1369G>C). The patient's clinical course through adulthood is described, and genotype-phenotype correlation is discussed. The A457P mutation appears to confer a relatively mild phenotype, as is usually observed with CFTR class IV–VI defects. With the advent of more comprehensive and widely available genetic testing techniques, identification of CF genotypes in patients with milder disease variants may help stratify patients for targeted therapy and prevent late complications of the disease.

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