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Volume 24, Issue 4 (July 2022) 24, 416–421; 10.4103/aja202177

CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family

Mahdieh Daliri Ghouchanatigh1, Ranjha Khan1, Majid Mojarrad2, Uzma Hameed3, Muhammad Zubair1, Ahmed Waqas4, Mohsen Jalali5, Mahmoudreza Kalantari4,6, Ali Shamsa2,5, Huan Zhang1, Qing-Hua Shi1

1 The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at the Microscale, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Collaborative Innovation Center of Genetics and Development, Hefei 230027, China
2 Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 91735, Iran
3 Institute of Industrial Biotechnology, Government College University, Lahore 54000, Pakistan
4 Department of Zoology, Division of Science and Technology, University of Education Lahore, Multan Campus, Multan 60000, Pakistan
5 Department of Reproductive Medicine, Armaghan Infertility Center, Mashhad 91735, Iran
6 Department of Pathology, Mashhad University of Medical Sciences, Mashhad 91735, Iran

Correspondence: Dr. H Zhang (zhh1985@ustc.edu.cn) or Dr. QH Shi (qshi@ustc.edu.cn)

Date of Submission 18-May-2021 Date of Acceptance 06-Sep-2021 Date of Web Publication 05-Nov-2021


Cystic fibrosis (CF) is one of the most common recessive genetic diseases, with a wide spectrum of phenotypes, ranging from infertility to severe pulmonary disease. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are considered the main genetic cause for CF. In this study, we recruited a consanguineous Iranian pedigree with four male patients diagnosed with congenital unilateral absence of the vas deferens (CUAVD), and one female patient diagnosed with congenital absence of the uterus (CAU). Testicular biopsy of one patient was performed, and hematoxylin and eosin (H and E) staining of testis sections displayed the presence of germ cell types ranging from spermatogonia to mature spermatids, indicating obstructive azoospermia. To explore the underlying genetic factor in this familial disorder, we therefore performed whole-exome sequencing (WES) on all available family members. WES data filtration and CFTR haplotype analysis identified compound heterozygous mutations in CFTR among four patients (two CUAVD patients carried p.H949Y and p.L997F, and one CUAVD and the female CAU patient carried p.H949Y and p.I148T). All these mutations were predicted to be deleterious by at least half of the prediction software programs and were confirmed by Sanger sequencing. Our study reported that CFTR compound heterozygous mutations in a consanguineous Iranian family cause infertility in both sexes.

Keywords: congenital absence of the uterus; congenital unilateral absence of the vas deferens; cystic fibrosis transmembrane conductance regulator; whole-exome sequencing

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