Molecular Screening of the<i>CFTR</i>Gene in Mexican Patients with Congenital Absence of the Vas Deferens

Saldaña-Álvarez, Yolanda; Jiménez-Morales, Silvia; Echevarría-Sánchez, Mirna; Jiménez-Ruíz, Juan Luis; García-Cavazos, Ricardo; Velázquez‐Cruz, Rafael; Carnevale, Alessandra; Orozco, Lorena

doi:10.1089/gtmb.2011.0124

Cited by 3 publications

(1 citation statement)

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“…In other populations, the frequency of the IVS9-5T in CBAVD patients varies between 3.1% in Mexico, suggesting that this mutation does not play a significant role in CF-CBAVD in that country (Saldanã-Alvarez et al, 2012) and 45.6% in Italy (Giuliani et al ., 2010). In Algerian/Tunisian CBAVD patients, the IVS9-5T was found in 12.5% of the alleles (Boudaya et al ., 2012), but in China IVS9-5T was found in 44.5% of the CBAVD alleles (Ni et al ., 2012).…”

Section: Introductionmentioning

confidence: 99%

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling

et al. 2017

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Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men with cystic fibrosis (CF, an autosomal recessive disorder) have CBAVD. There are genetic links between CBAVD and CF. Some mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) can lead to CBAVD as a monosymptomatic form of CF. With the use of assisted reproductive techniques (ART), especially testicular or epididymal sperm aspiration, intracytoplasmic sperm injection, and in vitro fertilization, it is possible that men with CBAVD can produce offspring. Therefore, genetic counseling should be offered to couples undergoing ART to discuss the probability of having offspring that carry CFTR gene mutations. The aim of this review was to present the main cause of CBAVD, to call attention to its implications for assisted reproduction, and to show the importance of genetic counseling for couples where men have CBAVD, as they can have offspring with a lethal disease.

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Section: Introductionmentioning

confidence: 99%

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling

et al. 2017

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Congenital absence of the vas deferens: Cystic fibrosis transmembrane regulatory gene mutations

Wong

et al. 2020

Best Practice & Research Clinical Endocrinology & Metab

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CFTR gene variants as a reason for impaired spermatogenesis: a pilot study and a Meta-analysis of published data

et al. 2021

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Molecular Screening of theCFTRGene in Mexican Patients with Congenital Absence of the Vas Deferens

Abstract: These data showed that the CFTR mutations but not the IVS8-Tn polymorphism are involved in CBAVD etiology in a Mexican population. Nevertheless, other screening strategies should be used to rule out the implication of CFTR mutations in idiopathic azoospermic disease.

Cited by 3 publications

References 38 publications

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling

Congenital absence of the vas deferens: Cystic fibrosis transmembrane regulatory gene mutations

CFTR gene variants as a reason for impaired spermatogenesis: a pilot study and a Meta-analysis of published data

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