scholarly journals A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility

2017 ◽  
Vol 101 (3) ◽  
pp. 459-465 ◽  
Author(s):  
Tailai Chen ◽  
Yuehong Bian ◽  
Xiaoman Liu ◽  
Shigang Zhao ◽  
Keliang Wu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Female Infertility ◽  
Empty Follicle Syndrome

scholarly journals Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest

2019 ◽  
Vol 57 (3) ◽  
pp. 187-194 ◽  
Author(s):  
Wenjing Wang ◽  
Jie Dong ◽  
Biaobang Chen ◽  
Jing Du ◽  
Yanping Kuang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Splice Site ◽  
Genetic Factors ◽  
Splice Site Mutation ◽  
Female Infertility ◽  
Site Mutation ◽  
Whole Exome ◽  
Pronuclear Formation ◽  
Embryonic Arrest

BackgroundAbnormal pronuclear formation during fertilisation and subsequent early embryonic arrest results in female infertility. In recent years, with the prevalence of assisted reproductive technology, a few genes have been identified that are involved in female infertility caused by abnormalities in oocyte development, fertilisation and embryonic development. However, the genetic factors responsible for multiple pronuclei formation during fertilisation and early embryonic arrest remain largely unknown.ObjectiveWe aim to identify genetic factors responsible for multiple pronuclei formation during fertilisation or early embryonic arrest.MethodsWhole-exome sequencing was performed in a cohort of 580 patients with abnormal fertilisation and early embryonic arrest. Effects of mutations were investigated in HEK293T cells by western blotting and immunoprecipitation, as well as minigene assay.ResultsWe identified a novel homozygous missense mutation (c.397T>G, p.C133G) and a novel homozygous donor splice-site mutation (c.546+5G>A) in the meiotic gene REC114. REC114 is involved in the formation of double strand breaks (DSBs), which initiate homologous chromosome recombination. We demonstrated that the splice-site mutation affected the normal alternative splicing of REC114, while the missense mutation reduced the protein level of REC114 in vitro and resulted in the loss of its function to protect its partner protein MEI4 from degradation.ConclusionsOur study has identified mutations in REC114 responsible for human multiple pronuclei formation and early embryonic arrest, and these findings expand our knowledge of genetic factors that are responsible for normal human female meiosis and fertility.

scholarly journals A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)

2020 ◽  
Vol 8 (7) ◽  
Author(s):  
Qianhua Xu ◽  
Xiaoli Zhu ◽  
Madiha Maqsood ◽  
Wenqing Li ◽  
Xianhong Tong ◽  
...  
Keyword(s):  
Female Infertility ◽  
Human Female ◽  
Empty Follicle Syndrome

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

Severe Homozygous Protein C Deficiency: Identification of a Splice Site Missense Mutation (184, Q → H) in Exon 7 of the Protein C Gene

1994 ◽  
Vol 72 (01) ◽  
pp. 065-069 ◽  
Author(s):  
J M Soria ◽  
D Brito ◽  
J Barceló ◽  
J Fontcuberta ◽  
L Botero ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Gene Product ◽  
Splice Site ◽  
Protein C ◽  
Purpura Fulminans ◽  
Single Strand Conformation Polymorphism ◽  
Donor Splice Site ◽  
Protein C Deficiency ◽  
Donor Splice ◽  
Newborn Child

SummarySingle strand conformation polymorphism (SSCP) analysis of exon 7 of the protein C gene has identified a novel splice site missense mutation (184, Q → H), in a newborn child with purpura fulminans and undetectable protein C levels. The mutation, seen in the homozygous state in the child and in the heterozygous state in her mother, was characterized and found to be a G to C nucleotide substitution at the -1 position of the donor splice site of intron 7 of the protein C gene, which changes histidine 184 for glutamine (184, Q → H). According to analysis of the normal and mutated sequences, this mutation should also abolish the function of the donor splice site of intron 7 of the protein C gene. Since such a mutation is compatible with the absence of gene product in plasma and since DNA sequencing of all protein C gene exons in this patient did not reveal any other mutation, we postulate that mutation 184, Q → H results in the absence of protein C gene product in plasma, which could be the cause of the severe phenotype observed in this patient.

A Novel Missense Mutation in the Endoglin Gene in Hereditary Hemorrhagic Telangiectasia

1997 ◽  
Vol 77 (02) ◽  
pp. 243-247 ◽  
Author(s):  
Hiroshi Yamaguchi ◽  
Hiroyuki Azuma ◽  
Toshio Shigekiyo ◽  
Hideo Inoue ◽  
Shiro Saito
Keyword(s):  
Missense Mutation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Autosomal Dominant Disorder ◽  
Her Family ◽  
Normal Individuals ◽  
Oligonucleotide Hybridization ◽  
Vascular Dysplasia ◽  
Exon 4

SummaryHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystem vascular dysplasia and recurrent hemorrhage. Recent investigation has mapped one of the responsible genes for HHT to chromosome 9q33-q34; subsequently, nine different mutations have been identified in the endoglin gene, which encodes a transforming growth factor β(TGF-β) binding protein, in nine unrelated families with HHT. We examined the endoglin gene in a Japanese patient with HHT and her family members. Using PCR-SSCP. analysis followed by sequencing, we identified a C to A missense mutation in exon 4 which changed an Ala160 codon(GCT) to an Asp160 codon (GAT). Since this mutation destroys one of three Fnu4H I sites in exon 4, the Fnu4H I digestion patterns of the PCR-amplified exon 4 fragments from each family member were analyzed. In affected members, the restriction patterns were all consistent with a phenotype of HHT. PCR-amplified exon 4 fragments from 150 normal individuals were also analyzed by allele-specific oligonucleotide hybridization analysis. As a result, the mutation was not found in any of them. We conclude that the C to A mutation in exon 4 of the endoglin gene in this proband is responsible for the occurrence of HHT in this family.

Study on Causes of Female Infertility at National Ayurveda Teaching Hospital, Borella, Sri Lanka: A Survey Based Study

2017 ◽  
Vol 3 (1) ◽  
pp. 249-252
Author(s):  
Farzana MUZN ◽  
Arshiya Sultana
Keyword(s):  
Sri Lanka ◽  
Teaching Hospital ◽  
Married Women ◽  
Female Infertility ◽  
Policy Makers ◽  
Complex Disorder ◽  
Anovulatory Cycle ◽  
Common Causes ◽  
Increasing Trend ◽  
One Year

Background: Infertility is defined as the inability to conceive after at least one year of unprotected intercourse. It is a complex disorder with significant medical, psychosocial, and economic problems. In about one third of couples are infertile. Approximately 167 million married women aged 15-49 years in developing countries were infertility. The present study aimed to determine the most common causes of female infertility in patients who visiting the National Ayuvedic Teaching Hospital, Borella, Sri Lanka. Methods: In this study 635 infertile (primary and secondary) women were selected to determine the causes of infertility. The subjects were selected from the gynecology clinic, between the periods of February 2015 to March 2016. The data were gathered using a questionnaire; and after that proper statistical method was applied to analyze the data. Results: From the results age between 28-37 years (37.16%) are more prevalent to infertility and the causes of infertility are mainly due to anovulatory cycle (31.18%) and menstrual irregularities (19.21%). BMI also one of the significant cause for infertility. Conclusion: Therefore, identifying the risk factors and proper treatment on time along with policy makers providing facilities to resolve the infertility could possible diverse this alarming increasing trend of infertility.

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