scholarly journals First Infertile Case with CSTF2TGene Mutation

2020 ◽  
Vol 11 (4) ◽  
pp. 228-231 ◽  
Author(s):  
Ozlem Gorukmez ◽  
Orhan Gorukmez
Keyword(s):  
Male Infertility ◽  
Exome Sequencing ◽  
Gene Mutation ◽  
Nonsense Mutation ◽  
Genetic Factors ◽  
Male Mice ◽  
Infertile Patient ◽  
Infertile Men ◽  
Clinical Exome Sequencing ◽  
Homozygous Nonsense Mutation

Male infertility is multifactorial and presents with heterogeneous phenotypic features. Genetic factors are responsible for up to 15% of the male infertility cases. Loss of the <i>Cstf2t</i> gene in male mice results in infertility. No disease-associated mutations have been described for this gene in infertile men. Here, we report a patient diagnosed with infertility in whom a homozygous nonsense mutation in the <i>CSTF2T</i> gene was detected by clinical exome sequencing. This case is the first description of an infertile patient who has a homozygous <i>CSTF2T</i> mutation.

scholarly journals Observational study of Y chromosome microdeletion, EAA markers and non EAA markers in Chhattishgarh

2021 ◽  
Vol 8 (3) ◽  
pp. 310-313
Author(s):  
Manisha B Sinha ◽  
Suprava Patel ◽  
Nilaj Bagde ◽  
H P Sinha ◽  
Apoorva Joshi
Keyword(s):  
Observational Study ◽  
Male Infertility ◽  
Y Chromosome ◽  
Genetic Factors ◽  
Semen Analysis ◽  
Geographic Location ◽  
Inclusion Criteria ◽  
Y Chromosome Microdeletion ◽  
Infertile Men ◽  
Single Deletion

Genetic factors contribute to 15% of all causes of male infertility. Y chromosome microdeletion is the second most common genetic cause of male infertility. Screening is important for Yq microdeletion as the defect can be transferred to offspring. Aim of our study is to detect the frequency of Y chromosome microdeletion in idiopathic infertile men using both EAA and non EAA markers in central region of India. Forty men from infertility clinic, seeking treatment of infertility were recruited in the study as cases. Thirty normal fertile men of same origin were recruited as controls. Semen analysis was done and cytogenetic normal infertile men were included in the study. Simplex and multiplex PCR methods were used to detect Yq microdeletions. Frequency of deletion was 11/40 (27.5%). Single deletion of AZF a,b,c were 12.5%, 7.5%, 2.5% respectively (). Double deletions of AZF a+c and b+c were 2.5% each (). Two subjects showed deletion for more than one loci. Overall frequency of deletion depends on sample size, no of markers used, inclusion criteria of subjects and geographic location. So, the screening is important for Yq microdeletion as the defect may be inherited to offspring.

scholarly journals Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Dongdong Tang ◽  
Mingrong Lv ◽  
Yang Gao ◽  
Huiru Cheng ◽  
Kuokuo Li ◽  
...  
Keyword(s):  
Male Infertility ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Factors ◽  
Testicular Biopsy ◽  
Severe Form ◽  
Testicular Sperm Extraction ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval ◽  
Whole Exome

Abstract Background Non-obstructive azoospermia (NOA) is the most severe form of male infertility; more than half of the NOA patients are idiopathic. Although many NOA risk genes have been detected, the genetic factors for NOA in majority of the patients are unknown. In addition, it is difficult to retrieve sperm from these patients despite using the microsurgical testicular sperm extraction (microTESE) method. Therefore, we conducted this genetic study to identify the potential genetic factors responsible for NOA and investigate the sperm retrieval rate of microTESE for genetically deficient NOA patients. Methods Semen analyses, sex hormone testing, and testicular biopsy were performed to categorize the patients with NOA. The chromosome karyotypes and Y chromosome microdeletion analyses were used to exclude general genetic factors. Whole exome sequencing and Sanger sequencing were performed to identify potential genetic variants in 51 patients with NOA. Hematoxylin and eosin staining (H&E) and anti-phosphorylated H2AX were used to assess the histopathology of spermatogenesis. Quantitative real time-polymerase chain reaction, western blotting, and immunofluorescence were performed to verify the effects of gene variation on expression. Results We performed whole exome sequencing in 51 NOA patients and identified homozygous helicase for meiosis 1(HFM1) variants (NM_001017975: c.3490C > T: p.Q1164X; c.3470G > A: p.C1157Y) in two patients (3.9%, 2/51). Histopathology of the testis showed that spermatogenesis was completely blocked at metaphase in these two patients carrying the HFM1 homozygous variants. In comparison with unaffected controls, we found a significant reduction in the levels of HFM1 mRNA and protein expression in the testicular tissues from these two patients. The patients were also subjected to microTESE treatment, but the sperms could not be retrieved. Conclusions This study identified novel homozygous variants of HFM1 that are responsible for spermatogenic failure and NOA, and microTESE did not aid in retrieving sperms from these patients.

scholarly journals A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency

2020 ◽  
Vol 37 (4) ◽  
pp. 821-828 ◽  
Author(s):  
Fengsong Wang ◽  
Jingjing Zhang ◽  
Shuai Kong ◽  
Chanjuan Li ◽  
Zhiguo Zhang ◽  
...  
Keyword(s):  
Male Infertility ◽  
Nonsense Mutation ◽  
Oocyte Activation ◽  
Homozygous Nonsense Mutation

scholarly journals Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family

2020 ◽  
Vol 36 (6) ◽  
Author(s):  
Muhammad Imran Naseer ◽  
Angham Abdulrahman Abdulkareem ◽  
Mohammed Mohammed Jan ◽  
Adeel G. Chaudhary ◽  
Mohammad H. Al-Qahtani
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Nonsense Mutation ◽  
Sanger Sequencing ◽  
Homozygous Mutation ◽  
Tay Sachs Disease ◽  
Whole Exome ◽  
Hexa Gene ◽  
Saudi Family ◽  
Homozygous Nonsense Mutation

Objective: To study the causative variants in affected member of a Saudi family with Tay-Sachs disorder. This disorder includes paralysis, decreasing in attentiveness, seizures, blindness, motor deterioration progresses rapidly leading to a completely unresponsive state and a cherry-red spot visible on the eye. Methods: Whole exome sequencing (WES) and Sanger sequencing was performed to study the variant leading to the disease. Results: WES data analysis and Sanger sequencing validation, identifies a homozygous nonsense mutation c.1177C>T, p.Arg393Ter as a result in protein change. This mutation was also studied in 100 unrelated healthy controls. Conclusions: We detected homozygous mutation in HEXA gene that may lead to cause Tay-Sachs disorder. Moreover, explain the possibility that HEXA gene may play important role for multiple aspects of normal human neurodevelopment. doi: https://doi.org/10.12669/pjms.36.6.2579 How to cite this:Naseer MI, Abdulkareem AA, Jan MM, Chaudhary AG, Al-Qahtani MH. Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family. Pak J Med Sci. 2020;36(6):---------.  doi: https://doi.org/10.12669/pjms.36.6.2579 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

scholarly journals GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES

2018 ◽  
Vol 19 (2) ◽  
pp. 40-51
Author(s):  
N. Yu. Safina ◽  
T. A. Yamandi ◽  
V. B. Chernykh ◽  
L. V. Akulenko ◽  
S. V. Bogolyubov ◽  
...  
Keyword(s):  
Male Infertility ◽  
Genetic Factors ◽  
Sex Chromosome ◽  
Gene Mutations ◽  
Normal Karyotype ◽  
Chromosome Abnormalities ◽  
Cag Repeats ◽  
Infertile Men ◽  
Sex Chromosome Abnormalities ◽  
Male Patients

The objectiveis to study the occurrence of common genetic factors of male infertility in men with reproductive problems, their combinations and spermatological characteristics.Materials and methods. 393 men with infertility in marriage were examined. According to the results of the cytogenetic study, the sample is divided into 3 groups: 135 men with numerical sex chromosome abnormalities; 58 male patients with a balanced structural rearrangement; 200 men with normal karyotype. Y chromosome microdeletions, CFTR gene mutations and CAG-repeats polymorphism of AR gene were analyzed.Results. The Y-chromosome microdeletions partially AZFc deletions were detected in 13 % male patients with sex chromosome abnormalities. A combination of chromosomal abnormalities with AZF deletions and/or CFTR gene mutations and long CAG repeats of AR gene was found in 19 % infertile men with balanced chromosome rearrangements. Infertile men with normal male karyotype presented the frequency of common genetic factors of male infertility was almost 2 times higher than the combined frequency of these factors in groups of patients with chromosomes abnormalities. Azoospermia in men with normal karyotype and patients with chromosome abnormalities was diagnosed with the same frequency (58 %). In all men who have identified the presence of two or more genetic factors of male infertility, severe forms of pathozoospermia (azoospermia and severe oligozoospermia) were found.Conclusion. The combination of genetic factors of male infertility is accompanied by severe forms of pathozoospermia that indicates a possible additive effect of negative effect on spermatogenesis and male fertility. 

scholarly journals Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility

2012 ◽  
Vol 3 (3) ◽  
pp. 69-77 ◽  
Author(s):  
Alaaeldin Gamal Fayez ◽  
Amr Saad El-Sayed ◽  
Mohamed Ali El-Desouky ◽  
Waheba Ahmed Zarouk ◽  
Alaa Khalil Kamel ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Copy Number ◽  
Genetic Factors ◽  
Gene Dosage ◽  
Copy Number Variations ◽  
Infertile Men ◽  
Egyptian Patients ◽  
Daz Gene

ABSTRACT Men with severe infertility suffer a high risk of Y chromosome deletion, hence screening for these cases is recommended prior to treatment with assisted reproduction. Our study aimed to investigate and detect the azoospermia factor (AZF) region deletion, rearrangement and deleted azoospermia (DAZ) gene copy number variations in Egyptian azoospermic infertile men. This was tested on 54 Egyptian nonobstructive azoospermic (NOA) infertile men, with age ranged from 21 to 45 years (mean: 31.4 ± 6.1 years), by STS ± multiplex PCR using a set of 14 sequence tagged sites (STSs) from three different regions of the Y chromosome: AZFa, AZFb, AZFc and sY587/DraI PCRRFLP assay to determine DAZ copy number variations. The results revealed a significant prevalence of AZFc subtypes deletion and reduced DAZ gene dosage in Egyptian azoospermic cases affecting Y chromosome deletions. To our knowledge, this study is the first one to investigate AZFc subtypes deletion and DAZ gene dosage in Egyptian infertile men. We concluded that DAZ genes deletion is a risk factor for spermatogenic damage. How to cite this article Fayez AG, El-Sayed AS, El-Desouky MA, Zarouk WA, Kamel AK, Fahmi IM, El-Ruby MO. Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility. Int J Infertility Fetal Med 2012;3(3):69-77.

The influence of Robertsonian translocations on semen parameters

2020 ◽  
pp. 87-88
Author(s):  
М.В. Андреева ◽  
М.И. Штаут ◽  
Т.М. Сорокина ◽  
Л.Ф. Курило ◽  
В.Б. Черных
Keyword(s):  
Male Infertility ◽  
Semen Parameters ◽  
Meiotic Arrest ◽  
Robertsonian Translocations ◽  
Prophase I ◽  
Infertile Men ◽  
Fertility Problems ◽  
Spermatogenesis Impairment

Обследованы 19 мужчин с нарушением фертильности, носителей транслокаций rob(13;14) и rob(13;15). Показано, что нарушение репродуктивной функции обусловлено блоком сперматогенеза в профазе I мейоза, приводящего к азооспермии или олигоастенотератозооспермии и мужскому бесплодию. We examined 19 infertile men, carriers of translocations rob (13;14) and rob (13;15). We assume that fertility problems are resulted from spermatogenesis impairment because of meiotic arrest at prophase I stages, that leads to azoospermia or oligoastenoteratozoospermia and male infertility.

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