Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles

Andrology
Ping YuanW J Wang

Abstract

Congenital absence of vas deferens (CAVD) is a major cause of obstructive azoospermia. Mutations in CFTR and ADGRG2 are responsible for this disease. However, until now the genetic spectrum of the CFTR and ADGRG2 genes in Chinese population and the reasons of the differences from Caucasian cohorts were not clear. (i) To study the characteristic and functional consequences of CFTR and ADGRG2 mutations in Chinese CAVD patients. (ii) To describe the genetic spectrum of Chinese CAVD patients and explain the reasons of the differences from Caucasian cohorts and Chinese cystic fibrosis (CF) patients. Patients were screened for mutations in CFTR by Sanger sequencing. Patients with only one or no mutations were further investigated by multiplex ligation-dependent probe amplification analysis and direct sequencing of ADGRG2 gene. Bioinformatic analysis and structural modeling of proteins were performed. A total of 28 mutations in CFTR were identified in 72 patients, of which five mutations were novel. Fifty-five patients (76.39%) had CFTR mutations but no indels, among which 80.00% CBAVD patients have at least one CFTR mutation and 66.67% CUAVD have at least one CFTR mutation. Two novel mutations (p.Lys818* and p.Arg1008Gln) in ADGRG2 w...Continue Reading

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Aug 30, 2019·Nature Reviews. Drug Discovery·Frederic BassilanaMarie-Gabrielle Ludwig
Sep 21, 2020·Molecular Genetics & Genomic Medicine·Chengquan MaBinbin Wang
Dec 20, 2019·Expert Review of Molecular Diagnostics·Alberto Ferlin, Liborio Stuppia
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Dec 26, 2019·Human Genetics·Matthias VockelCsilla Krausz
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Apr 4, 2021·International Journal of Molecular Sciences·Francesca CioppiCsilla Krausz
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