A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens

ConclusionOur findings may broaden the mutation spectrum ofCFTR in CAVD patients and provide more familial evidence that the combination of a mild variant and a severe variant intrans ofCFTR can cause vas deferens malformation.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research

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This article reviews the pathophysiology, diagnosis, and management of infertility and testosterone deficiency that occur in men with CF. With improving survival of CF patients, these topics are becoming more significant in their clinical care.
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Source Type: research
This study aim to explore the promoter region of CFTR gene in CBAVD patients and study the mutations by functional analysis, and to discuss the significance of mutation testing in this area. We performed screening analysis on 65 CBAVD patients and 50 controls to detect mutations in the CFTR gene, and studied the functions of promoter mutations using reporter gene constructs, transient transfection techniques and subsequent assessment of transcriptional activity and expression levels. Mutations c.-195C>A and c.-34C>T in the promoter region of the CFTR gene were detected in 4 of our Chinese CBAVD patients, one of which...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
Summary 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...
Source: Andrology - Category: Urology & Nephrology Authors: Tags: Review Article Source Type: research
In this study, we performed whole‐exome sequencing in 18 unrelated CBAVD patients and identified two missense variants in two patients (c.G1709A, p.C570Y; and c.A2968G, p.K990E). Both variants were predicted to be deleterious and highly conserved in silico. The p.C570Y variant is located in the G protein‐coupled receptor (GPCR) proteolysis site domain, which is functionally necessary for autoproteolysis, while the p.K990E variant is in the N‐terminal fragment that may regulate activity of the adhesion GPCR. We did not find any potential pathogenic CFTR variants, implying the ADGRG2 variants are the genetic cause in t...
Source: Andrology - Category: Urology & Nephrology Authors: Tags: Original Article Source Type: research
Publication date: Available online 10 May 2017 Source:Best Practice & Research Clinical Obstetrics & Gynaecology Author(s): Ryan Flannigan, Peter N. Schlegel Approximately 15% of couples are infertile. Male factors contribute to infertility in over 50% of cases. Identifiable genetic abnormalities contribute to 15%–20% of the most severe forms of male infertility, azoospermia. In this chapter, we explore known genetic causes of male infertility such as Klinefelter syndrome, XYY men, Kallmann syndrome, y-microdeletions, Robertsonian translocations, autosomal inversions, mixed gonadal dysgenesis, x-linked and a...
Source: Best Practice and Research Clinical Obstetrics and Gynaecology - Category: OBGYN Source Type: research
Approximately 15% of couples are infertile. Male factors contribute to infertility in over 50% of cases. Identifiable genetic abnormalities contribute to 15-20% of the most severe forms of male infertility, azoospermia. In this chapter, we will explore known genetic causes of male infertility such as: Klinefelter syndrome, XYY men, Kallman syndrome, y-microdeletions, Robertsonian translocations, autosomal inversions, mixed gonadal dysgenesis, x-linked and autosomal gene mutations, and Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) abnormalities.
Source: Best Practice and Research. Clinical Obstetrics and Gynaecology - Category: OBGYN Authors: Source Type: research
Approximately 15% of couples are infertile. Male factors contribute to infertility in over 50% of cases. Identifiable genetic abnormalities contribute to 15% –20% of the most severe forms of male infertility, azoospermia. In this chapter, we explore known genetic causes of male infertility such as Klinefelter syndrome, XYY men, Kallmann syndrome, y-microdeletions, Robertsonian translocations, autosomal inversions, mixed gonadal dysgenesis, x-linked and autosomal gene mutations, and cystic fibrosis transmembrane conductance regulator abnormalities.
Source: Best Practice and Research. Clinical Obstetrics and Gynaecology - Category: OBGYN Authors: Tags: 2 Source Type: research
by Ya-Yun Wang, Ying-Hung Lin, Yi-No Wu, Yen-Lin Chen, Yung-Chih Lin, Chiao-Yin Cheng, Han-Sun Chiang Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF) and are associated with congenital bilateral absence of the vas deferens (CBAVD), which is the major cause of infertility in male patients with CF. However, most Taiwanese patients with CBAVD do not carry majorCFTR mutations. Some patients have a single copy deletion of the solute carrier family 9 isoform 3 (SLC9A3) gene. SLC9A3 is a Na+/H+ exchanger, and depletedSlc9a3 in male mice causes infertility due to the abn...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
Conclusion Initial assessment of the infertile male include; thorough reproductive history, and at least one semen examination. Endocrine assessment indicated for males with abnormal semen analysis. Post-ejaculatory urine analysis performed in males having <1 mL ejaculation volume, except in congenital bilateral absent vasa deferentia (CBAVD), and hypogonadism. Genetic testing for cystic fibrosis transmembrane conductance regulator (CFTR) mutations offered to male with CBAVD before IVF. Males with severe oligozoospermia and/or non-obstructive azoospermia are at risk of genetic abnormality, and must offered karyotype and...
Source: Asian Pacific Journal of Reproduction - Category: Reproduction Medicine Source Type: research
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). For the remaining 20%, the origin of the CBAVD is unknown. A large cohort of azoospermic men with CBAVD was retrospectively reassessed with more stringent selection criteria based on consistent clinical data, complete description of semen and reproductive excurrent ducts, extensive CFTR testing, and kidney ultrasound examination.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Report Source Type: research
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