Bilateral Absence Of Vas Deferens Research Articles

Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

Human MutationVolume 9, Issue 2 p. 183-184 Mutations in Brief Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD) J Zielenski, J Zielenski Department of Genetics, Hospital for Sick Children, Toronto, CanadaSearch for more papers by this authorP Patrizio, P Patrizio Department of Obstetrics and Gynecology, University of California at Irvine, Orange, CaliforniaSearch for more papers by this authorD Markiewicz, D Markiewicz Department of Genetics, Hospital for Sick Children, Toronto, CanadaSearch for more papers by this authorRH Asch, RH Asch Department of Obstetrics and Gynecology, University of California at Irvine, Orange, CaliforniaSearch for more papers by this authorL-C Tsui, Corresponding Author L-C Tsui Department of Genetics, Hospital for Sick Children, Toronto, Canada Departments of Molecular and Medical Genetics, University of Toronto, Toronto, Canada M5G 1χ8; Fax: 416-813-4931Department of Genetics, Hospital for Sick Children, Toronto, Canada; Departments of Molecular and Medical Genetics, University of Toronto, Toronto, Canada M5G 1χ8; Fax: 416-813-4931Search for more papers by this author J Zielenski, J Zielenski Department of Genetics, Hospital for Sick Children, Toronto, CanadaSearch for more papers by this authorP Patrizio, P Patrizio Department of Obstetrics and Gynecology, University of California at Irvine, Orange, CaliforniaSearch for more papers by this authorD Markiewicz, D Markiewicz Department of Genetics, Hospital for Sick Children, Toronto, CanadaSearch for more papers by this authorRH Asch, RH Asch Department of Obstetrics and Gynecology, University of California at Irvine, Orange, CaliforniaSearch for more papers by this authorL-C Tsui, Corresponding Author L-C Tsui Department of Genetics, Hospital for Sick Children, Toronto, Canada Departments of Molecular and Medical Genetics, University of Toronto, Toronto, Canada M5G 1χ8; Fax: 416-813-4931Department of Genetics, Hospital for Sick Children, Toronto, Canada; Departments of Molecular and Medical Genetics, University of Toronto, Toronto, Canada M5G 1χ8; Fax: 416-813-4931Search for more papers by this author First published: 07 January 1999 https://doi.org/10.1002/(SICI)1098-1004(1997)9:2<183::AID-HUMU13>3.0.CO;2-ZCitations: 1AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article.Citing Literature Volume9, Issue21997Pages 183-184 RelatedInformation

Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)

Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)

Mild CF in a ΔF508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes?

A woman with unusually mild cystic fibrosis (CF) and normal sweat chloride levels is reported to have delta F508 deletion on one CF chromosome and the rare mutation R347H on the other, the first known female with this mutation. Of the other eight cases with R347H mutation mentioned in the literature, all five patients whose age and sex were given in the reports were men and had congenital bilateral absence of vas deferens (CBAVD). Considering these data, it is not unrealistic to assume that R347H associates more frequently than other CF mutations with CBAVD, which would mean that the clinical significance of this mutation might differ in males and females.

Structural analysis of CFTR gene in congenital bilateral absence of vas deferens

Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a cohort of 25 CBAVD patients. Among the 50 chromosomes studied, 24 mutations were identified: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G --> T (1 case), and A1067V (1 case). Except for delta F508, the most frequent mutations (R117H, R1070W) were not observed in the CF group (109 patients) studied in our laboratory. We discuss the significance of these results.

Medical genetics: advances in brief: Congenital bilateral absence of vas deferens in the absence of cystic fibrosis

Medical genetics: advances in brief: Congenital bilateral absence of vas deferens in the absence of cystic fibrosis

Congenital bilateral absence of vas deferens in the absence of cystic fibrosis

The high frequency of mutations in the cystic fibrosis gene in patients with congenital bilateral absence of vas deferens (CBAVD) has raised the question whether all of them have a genital form of cystic fibrosis. We investigated 47 CBAVD patients by ultrasonography, 10 (21%) had renal malformations and 37 (79%) did not. In the former group, no cystic fibrosis mutations were found and sweat chloride concentrations were normal. In the latter group, 18 patients (49%) carried at least one cystic fibrosis mutation and sweat chloride was high in 17 of 26 tested (65%). Our findings suggest that CBAVD patients with renal malformations do not necessarily have cystic fibrosis.

On the familial occurrence of congenital bilateral absence of vas deferens

Clinical GeneticsVolume 37, Issue 2 p. 159-159 On the familial occurrence of congenital bilateral absence of vas deferens Simone Gilgenkrantz, Corresponding Author Simone GilgenkrantzC. R. T S. de Nancy Brabois Avenue a2 Bourgogne 54500 Vandoevre Les NancySearch for more papers by this authorP. Guillemin, P. GuilleminSearch for more papers by this authorB. Kimmel, B. KimmelSearch for more papers by this author Simone Gilgenkrantz, Corresponding Author Simone GilgenkrantzC. R. T S. de Nancy Brabois Avenue a2 Bourgogne 54500 Vandoevre Les NancySearch for more papers by this authorP. Guillemin, P. GuilleminSearch for more papers by this authorB. Kimmel, B. KimmelSearch for more papers by this author First published: February 1990 https://doi.org/10.1111/j.1399-0004.1990.tb03495.xCitations: 1AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume37, Issue2February 1990Pages 159-159 RelatedInformation

Diagnosis of Cystic Fibrosis in Adults.

Cystic fibrosis is a genetic recessive disorder caused by mutations in the gene that encodes the CFTR protein. The diagnosis of cystic fibrosis is usually established in early childhood but it is now being made in an increasing number of adults. Many of them present with mild or atypical cystic fibrosis clinical features, mostly lung disease. In addition, some adults with congenital bilateral absence of vas deferens or idiopathic chronic pancreatitis may be assigned a diagnosis of cystic fibrosis. The diagnosis of cystic fibrosis in adults should be based on the presence of one or more characteristic clinical features, a history of cystic fibrosis in a sibling, plus evidence of defective CFTR function as documented by elevated sweat chloride concentrations or abnormal ion transport across the nasal epithelium, or identification of mutations on both CFTR genes.