|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Option of complete CFTR gene analysis at a cost of about 1,500-2,000 dollars should be made available if one mutation is found in the male partner with congenital bilateral absence of vas deferens.
|
15482777 |
2004 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study was conducted to investigate the role of mutations in the CFTR gene in CBAVD-dependent male infertility.
|
22483971 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Screening for rearrangements should be part of comprehensive CFTR gene studies in CBAVD patients and may have impacts on genetic counselling for the patients and their families.
|
17329263 |
2007 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single CFTR gene mutation was found in 18 patients (48.6%) with CBAVD and in the patient with CUAVD.
|
11298840 |
2001 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
|
15287992 |
2004 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The identification of mutations in both CFTR alleles in CBAVD patients is a crucial requirement for calculating the risk of producing a child with full-blown CF if the female partner is a healthy CF carrier.
|
20657600 |
2010 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for cystic fibrosis could show the relationship between this disease and bilateral absence of vas deferens.
|
22148899 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This manuscript reviews the frequencies, symptoms, testing, and reporting of genotypes with the 5T polythymidine tract which reduces splicing efficiency in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in congenital bilateral absence of the vas deferens (CBAVD) patients and in patients and fetuses with cystic fibrosis-like symptoms.
|
17394391 |
2007 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The frequencies of both CFTR gene alterations and polymorphisms did not differ significantly between the control group and men with idiopathic nonobstructive azoospermia and subfertility, but were significantly increased in men with CBAVD (DeltaF508, p = 0.039; IVS8-5T, p = 0.006).
|
11788091 |
2001 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The 5T allele of intron 8 of CFTR has clinically significant association with CBAVD.
|
24551851 |
2014 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study was conducted to explore the role of CFTR gene mutations in the occurrence of CBAVD-dependent male infertility.
|
16272798 |
2005 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The analysis of the poly-T tract is assuming increasing relevance, both to assess the implication of the CFTR gene in congenital bilateral absence of the vas deferens and to evaluate genotype-phenotype correlation in cystic fibrosis.
|
9590360 |
1998 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, it is suggested that screening of CFTR gene mutations may be required in infertile Indian males with other forms of infertility apart from CBAVD and willing for assisted reproduction technology.
|
25010724 |
2014 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The association between CBAVD and mutated CFTR (cystic fibrosis transmembrane conductance regulator) alleles is well demonstrated in Caucasians, but the identity of CBAVD-susceptibility genes remains elusive in Asians.
|
19095672 |
2009 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An unexpected finding, however, is the documentation of CFTR mutations in patients with atypical CF disease presentations, including congenital absence of vas deferens and several pulmonary diseases.
|
8825494 |
1995 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes.
|
16020494 |
2005 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study indicated that the CFTR polymorphisms poly-T, TG-repeats and M470V might affect the process of CBAVD in the Chinese population.
|
22842702 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also investigated a cohort of 800 French men with congenital bilateral absence of the vas deferens (CBAVD) and identified a total of 137 different CFTR mutations.
|
10923036 |
2000 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
|
7684646 |
1993 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
|
7739684 |
1995 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
|
7539342 |
1995 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A mutation in CFTR produces different phenotypes depending on chromosomal background.
|
7506096 |
1993 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As the vas deferens seems to be one of the tissues most susceptible to a reduction in the normal CFTR transcripts levels, and as two mild mutations are sufficient to induce CBAVD phenotype, these findings raise the possibility that these uncommon variants may be a novel cause of CBAVD.
|
20972246 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 80% of infertile men with obstructive azoospermia caused by a congenital bilateral absence of the vas deferens (CBAVD), mutations are identified in the cystic fibrosis transmembrane conductance regulator gene (CFTR).
|
27476656 |
2016 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
|
21520337 |
2011 |