scholarly journals A CASE REPORT SUGGESTS THAT NOVEL HETHEROZYGOUS MUTATION OF ITGB3 GENE IS RESPONSIBLE TO PARTIAL OOCYTE MATURATION ARREST SYNDROME

2021 ◽  
Vol 116 (3) ◽  
pp. e150
Author(s):  
Emanuela Molinari ◽  
Min Yang ◽  
Ariel Benor ◽  
Jianjun Hu ◽  
Lin Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Oocyte Maturation ◽  
Maturation Arrest

P–199 A case report to suggest that there must be other mutations than PATL2 or TUBB8 to cause oocyte maturation arrest

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
E Molinari ◽  
M Yang ◽  
J Hu ◽  
L Zhang ◽  
D F Albertini ◽  
...  
Keyword(s):  
Case Report ◽  
Oocyte Maturation ◽  
Fertilization Rate ◽  
Functional Study ◽  
Embryo Morphology ◽  
Loss Of Function ◽  
Maturation Arrest ◽  
Polar Bodies

Abstract Study question What causes our patient’s repeated almost complete oocyte maturation arrest (OMA)? Summary answer Since we did not detect PATL2 and TUBB8 mutations, both known to cause OMA, this case was likely caused by mutations in HUS1 and ITGB3 What is known already OMA has been associated with loss-of-function in key genes, such as PATL2 and TUBB8. Such patients have, however, uniformly have been unable to conceive with IVF Study design, size, duration We here report the case of repeatedly presenting patient between 2009 until 2020 (age 30 at 1st and 41 at last visit). Participants/materials, setting, methods The couple underwent 7 IVF treatments under several ovarian stimulation protocols at different gonadotropin dosages and in different preparations to try to recruit mature eggs. She conceived in her 2nd IVF cycle in 2009 and delivered uneventfully in 2010. She then conceived spontaneously and delivered a healthy boy in 2014. The couple since then has been attempting another pregnancy. Remarkably, in all IVF cycles all eggs but one arrested at prophase. Main results and the role of chance The female demonstrates abnormally high ovarian reserve for age (AMH=5.9 ng/mL in 2019) (mean, 10.6 oocytes). In all cycles, all but one retrieved were immature. In vitro maturation rate for the GV oocytes was 28%. Resultant M2s, however, demonstrated morphological abnormalities, such as giant polar bodies. In vivo M2s, in contrast, were always morphologically unremarkable, and their fertilization rate was 85%. Embryo morphology deteriorated appreciatively with advancing age. Sanger sequencing for TUBB8 and PATL2 genes were unremarkable. Whole genome sequencing of her and her sister (who had no fertility problems) revealed mutations of genes belonging to the integrin family (ITGB3) and DNA repair checkpoint (HUS1), both of which could be determinants in the observed maturation arrest. Limitations, reasons for caution A functional study, coupled with imaging of the discarded material, will likely offer further information regarding the mechanisms leading to OMA in this female. Wider implications of the findings: This case report represents a new phenotype of female infertility, characterized by almost complete maturation arrest which, however, still offers opportunity for pregnancy. Further isolation of underlying mutation(s) may offer additional insights about checkpoints required for the transition of prophase to metaphase in human oocytes. Trial registration number NA

scholarly journals Recurrent oocyte maturation arrest in in vitro fertilization cycles: Case report

2018 ◽  
Author(s):  
Banu Seven Yüksel ◽  
Nafiye Yılmaz ◽  
Evin Nil Uğurlu ◽  
Cavidan Gülerman ◽  
Yaprak Üstün
Keyword(s):  
Case Report ◽  
In Vitro Fertilization ◽  
Oocyte Maturation ◽  
Maturation Arrest ◽  
Vitro Fertilization

scholarly journals Human oocyte maturation arrest caused by a novel missense mutation in TUBB8

2018 ◽  
Vol 46 (9) ◽  
pp. 3759-3764 ◽  
Author(s):  
Jingjing Xiang ◽  
Wei Wang ◽  
Chunfeng Qian ◽  
Jiangyang Xue ◽  
Ting Wang ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Missense Mutation ◽  
Oocyte Maturation ◽  
Clinical Examination ◽  
Sanger Sequencing ◽  
Mutation Screening ◽  
Pcr Amplification ◽  
Human Oocyte ◽  
Maturation Arrest ◽  
Class Viii

Objective To explore the etiology of human oocyte maturation arrest in two infertile Chinese sisters. Methods Clinical examination and genetic testing of all available family members were conducted, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire tubulin beta 8 class VIII gene ( TUBB8) including intron–exon boundaries was performed to identify mutations. Results A novel missense TUBB8 mutation (c.1054G > T, p.A352S) in the patient and her elder sister was detected and shown to be associated with oocyte maturation arrest. Conclusion Our findings expand the known mutation spectrum of TUBB8 and provide insights into the etiology of human oocyte maturation arrest.

scholarly journals Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest

2020 ◽  
Vol 37 (4) ◽  
pp. 841-847 ◽  
Author(s):  
Zhenxing Liu ◽  
Lixia Zhu ◽  
Jiarui Wang ◽  
Geng Luo ◽  
Qingsong Xi ◽  
...  
Keyword(s):  
Oocyte Maturation ◽  
Female Infertility ◽  
Maturation Arrest ◽  
Homozygous Mutations

scholarly journals Maturation arrest of human oocytes as a cause of infertility: Case report

2002 ◽  
Vol 17 (6) ◽  
pp. 1604-1609 ◽  
Author(s):  
David Levran ◽  
Jacob Farhi ◽  
Hana Nahum ◽  
Marek Glezerman ◽  
Ariel Weissman
Keyword(s):  
Case Report ◽  
Maturation Arrest ◽  
Human Oocytes
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