The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens

Du, Qiyun; Li, Zheng; Pan, Yong‐Bao; Liu, Xiaoliang; Pan, Bochen; Wu, Bin

doi:10.1155/2014/689185

Cited by 21 publications

(20 citation statements)

References 26 publications

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“…IVS9‐5T is a class V variant that reduces protein expression but does not deactivate its function . In the current study, the occurrence rate of the IVS9‐5T allele (55.26% overall, 50.00% with 5T/7T and 5.26% with 5T/5T) was higher than that in other reports in Chinese cohorts, which were 44.5% and 32.02% . Missense mutations on transporter transmembrane regions (p.N186K, p.H199Y, p.A309G, p.G970D, p.D979A, and p.I1117T) may be class IV mutations resulting in defective channel conductance.…”

Section: Discussioncontrasting

confidence: 66%

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Wang

An²,

Liu

et al. 2020

Andrology

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Background Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia. CBAVD is mainly caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene and is also related to the X‐linked ADGRG2 (adhesion G protein‐coupled receptor G2) gene. Genetic screening and counseling strategies for Chinese CBAVD populations remain controversial because the genetic background of CBAVD in Chinese population is largely unknown. Objectives In this study, we aimed to study the mutation spectrum of CFTR and ADGRG2 in a group of CBAVD patients and to evaluate sperm retrieval outcomes in a subset of CBAVD patients. Materials and methods Next‐generation targeted sequencing was used to identify mutations in the CFTR and ADGRG2 genes in 38 CBAVD patients. In addition, we followed and analyzed nine of the 38 patients who were undergoing sperm retrieval surgery. Results In total, 27 of 38 (71.05%) patients carried at least one likely pathogenic or pathogenic mutation in CFTR or ADGRG2. In addition to the IVS9‐5T allele, 15 CFTR and 1 ADGRG2 mutations were identified, including 4 novel mutations. CFTR hot‐spot mutations were not identified in our study. Spermatozoon was successfully obtained in all nine patients who underwent MESA or TESE surgery, but most patients had spermatozoa with relatively low motility and high abnormality rates. Discussion and conclusion Except for the IVS9‐5T allele, hot‐spot mutations of CFTR may not exist in Chinese CBAVD patients. Therefore, next‐generation targeted sequencing for whole CFTR and ADGRG2 gene may be the appropriate genetic testing method, and genetic counseling may be different from Caucasian populations. We observed a high success rate of sperm retrieval with relatively low motility and high abnormality rates in Chinese CBAVD patients. However, this is only a weak conclusion due to the small sample size.

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Section: Discussioncontrasting

confidence: 66%

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Wang

An²,

Liu

et al. 2020

Andrology

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“…IVS9-10 (TG)m Tn is a common mutation type of the CFTR gene. Furthermore, the frequency of this mutation in chinese patients with cBaVd is slightly higher than that in Caucasian patients (44).…”

Section: Hotspot Mutation Types In Patients With Cbavdmentioning

confidence: 74%

Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review)

Cui¹,

Wu²,

Li³

et al. 2020

Mol Med Rep

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congenital bilateral absence of the vas deferens (cBaVd) is predominantly caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. cBaVd accounts for 2-6% of male infertility cases and up to 25% of cases of obstructive azoospermia. With the use of pre-implantation genetic diagnosis, testicular or epididymal sperm aspiration, intracytoplasmic sperm injection and in vitro fertilization, patients affected by cBaVd are able to have children who do not carry CFTR gene mutations, thereby preventing disease. Therefore, genetic counseling should be provided to couples receiving assisted reproductive techniques to discuss the impact of CFTR gene mutations on reproductive health. In the present article, the current literature concerning the CFTR gene and its association with CBAVD is reviewed. Contents 1. Introduction 2. Overview of CFTR structure and function 3. The CFTR gene and development of the vas deferens 4. The CFTR gene in patients with CBAVD 5. Hotspot mutation types in patients with CBAVD 6. Assisted reproductive techniques and genetic counselling 7. Conclusions

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“…Accordingly, the observation that mutations of the CFTR gene (F508del, as well as 5T allele of the intron 8 of CFTR) are connected with CBAVD parallels with the results of [25]. Additionally, variations of the TG-repeats (TG13T5 or TG12T5; type of mutations in CBAVD), in their opinion, also play a part in the manifestation of CBAVD [88]. However, Massart et al (2012) [86] noticed that about 88% of patients with two CFTR mutations carry severe mutation transformed to a mild mutation (respectively no CFTR function or residual CFTR function), whilst only 12% carry two mild mutations.…”

Section: Cystic Fibrosis and Congenital Bilateral Absence Of The Vas mentioning

confidence: 81%

“…Simultaneously, Du et al (2014) [88] considered CBAVD as a reason of nearly 6% of cases of obstructive azoospermia. Furthermore about 75% of CBAVD cases were direct manifestations of CFTR mutations F508del, 5T, and R117H (types of mutations in CBAVD).…”

Section: Cystic Fibrosis and Congenital Bilateral Absence Of The Vas mentioning

confidence: 99%

External and Genetic Conditions Determining Male Infertility

Kamiński

Baszyński

Jerzak

et al. 2020

IJMS

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We explain environmental and genetic factors determining male genetic conditions and infertility and evaluate the significance of environmental stressors in shaping defensive responses, which is used in the diagnosis and treatment of male infertility. This is done through the impact of external and internal stressors and their instability on sperm parameters and their contribution to immunogenetic disorders and hazardous DNA mutations. As chemical compounds and physical factors play an important role in the induction of immunogenetic disorders and affect the activity of enzymatic and non-enzymatic responses, causing oxidative stress, and leading to apoptosis, they downgrade semen quality. These factors are closely connected with male reproductive potential since genetic polymorphisms and mutations in chromosomes 7, X, and Y critically impact on spermatogenesis. Microdeletions in the Azoospermic Factor AZF region directly cause defective sperm production. Among mutations in chromosome 7, impairments in the cystic fibrosis transmembrane conductance regulator CFTR gene are destructive for fertility in cystic fibrosis, when spermatic ducts undergo complete obstruction. This problem was not previously analyzed in such a form. Alongside karyotype abnormalities AZF microdeletions are the reason of spermatogenic failure. Amongst AZF genes, the deleted in azoospermia DAZ gene family is reported as most frequently deleted AZF. Screening of AZF microdeletions is useful in explaining idiopathic cases of male infertility as well as in genetic consulting prior to assisted reproduction. Based on the current state of research we answer the following questions: (1) How do environmental stressors lessen the quality of sperm and reduce male fertility; (2) which chemical elements induce oxidative stress and immunogenetic changes in the male reproductive system; (3) how do polymorphisms correlate with changes in reproductive potential and pro-antioxidative mechanisms as markers of pathophysiological disturbances of the male reproductive condition; (4) how do environmental stressors of immunogenetic disorders accompany male infertility and responses; and (5) what is the distribution and prevalence of environmental and genetic risk factors.

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The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens

Cited by 21 publications

References 26 publications

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review)

External and Genetic Conditions Determining Male Infertility

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