A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration

2021 ◽  
Author(s):  
Yu Wang ◽  
Mingfei Xiang ◽  
Zhaojuan Yu ◽  
Yan Hao ◽  
Qianhua Xu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Oocyte Maturation ◽  
Maturation Arrest ◽  
Homozygous Missense Mutation

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 Interactions between the WEE-1.3 kinase and the PAM-1 aminopeptidase in oocyte maturation and the early C. elegans embryo

2021 ◽  
Author(s):  
Dorothy Benton ◽  
Eva C Jaeger ◽  
Arielle Kilner ◽  
Ashley Kimble ◽  
Josh Lowry ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Oocyte Maturation ◽  
Protective Role ◽  
C Elegans ◽  
Direct Target ◽  
The One ◽  
Actomyosin Cytoskeleton ◽  
Embryonic Viability ◽  
Anterior Posterior

Abstract Puromycin-sensitive aminopeptidases are found across phyla and are known to regulate the cell-cycle and play a protective role in neurodegenerative disease. PAM-1 is a puromycin-sensitive aminopeptidase important for meiotic exit and polarity establishment in the one-cell Caenorhabditis elegans embryo. Despite conservation of this aminopeptidase, little is known about its targets during development. In order to identify novel interactors, we conducted a suppressor screen and isolated four suppressing mutations in three genes that partially rescued the maternal-effect lethality of pam-1 mutants. Suppressed strains show improved embryonic viability and polarization of the anterior-posterior axis. We identified a missense mutation in wee-1.3 in one of these suppressed strains. WEE-1.3 is an inhibitory kinase that regulates maturation promoting factor. While the missense mutation suppressed polarity phenotypes in pam-1, it does so without restoring centrosome-cortical contact or altering the cortical actomyosin cytoskeleton. To see if PAM-1 and WEE-1.3 interact in other processes, we examined oocyte maturation. While depletion of wee-1.3 causes sterility due to precocious oocyte maturation, this effect was lessened in pam-1 worms, suggesting that PAM-1 and WEE-1.3 interact in this process. Levels of WEE-1.3 were comparable between wild-type and pam-1 strains, suggesting that WEE-1.3 is not a direct target of the aminopeptidase. Thus, we have established an interaction between PAM-1 and WEE-1.3 in multiple developmental processes and have identified suppressors that are likely to further our understanding of the role of puromycin-sensitive aminopeptidases during development.

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

2012 ◽  
Vol 36 (1) ◽  
pp. 55-62 ◽  
Author(s):  
Tobias B. Haack ◽  
Boris Rolinski ◽  
Birgit Haberberger ◽  
Franz Zimmermann ◽  
Jessica Schum ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Mitochondrial Dysfunctions ◽  
Homozygous Missense Mutation

scholarly journals First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene

2013 ◽  
Vol 4 ◽  
Author(s):  
Joan-Lluis Vives-Corrons ◽  
Pavla Koralkova ◽  
Josep M. Grau ◽  
Maria del Mar Mañú Pereira ◽  
Richard Van Wijk
Keyword(s):  
Missense Mutation ◽  
Homozygous Missense Mutation ◽  
Phosphofructokinase Deficiency

scholarly journals Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1

Seizure ◽  
2018 ◽  
Vol 57 ◽  
pp. 32-33 ◽  
Author(s):  
Zahraa Haidar ◽  
Nadine Jalkh ◽  
Sandra Corbani ◽  
Ali Fawaz ◽  
Eliane Chouery ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Homozygous Missense Mutation

scholarly journals ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

2018 ◽  
Vol 4 (2) ◽  
pp. e223 ◽  
Author(s):  
Christian G. Bouwkamp ◽  
Zaid Afawi ◽  
Aviva Fattal-Valevski ◽  
Inge E. Krabbendam ◽  
Stefano Rivetti ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Hereditary Spastic Paraplegia ◽  
Krebs Cycle ◽  
Spastic Paraplegia ◽  
Homozygous Carrier ◽  
Clinical Genetic ◽  
Homozygous Missense Mutation ◽  
Recessive Mutations ◽  
Mitochondrial Aconitase ◽  
Essential Enzyme

ObjectiveTo identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP).MethodsClinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP.ResultsA homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val) that segregated with HSP complicated by intellectual disability and microcephaly. Lymphoblastoid cell lines of homozygous carrier patients revealed significantly decreased activity of the mitochondrial aconitase enzyme and defective mitochondrial respiration. ACO2 encodes mitochondrial aconitase, an essential enzyme in the Krebs cycle. Recessive mutations in this gene have been previously associated with cerebellar ataxia.ConclusionsOur findings nominate ACO2 as a disease-causing gene for autosomal recessive complicated HSP and provide further support for the central role of mitochondrial defects in the pathogenesis of HSP.

Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4

2018 ◽  
Vol 46 (2) ◽  
pp. e61-e63
Author(s):  
Kenji Yoshida ◽  
Mariko Sadamoto ◽  
Takashi Sasaki ◽  
Akiharu Kubo ◽  
Akira Ishiko
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa ◽  
Homozygous Missense Mutation
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