Cargando…

Novel compound heterozygous mutation in WEE2 is associated with fertilization failure: case report of an infertile woman and literature review

BACKGROUND: Fertilization failure after intracytoplasmic sperm injection continues to affect couples and the etiology is not well-understood. CASE PRESENTATION: We characterized a couple with 2-year history of primary unexplained infertility. Three different assisted reproduction attempts (IVF + res...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tian, Ye, Wang, Guojie, Wang, Jin, Mu, Xiaohuan, Chen, Haixia, Song, Xueru, Bai, Xiaohong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7643268/ https://www.ncbi.nlm.nih.gov/pubmed/33148236 http://dx.doi.org/10.1186/s12905-020-01111-5

Ejemplares similares

Novel WEE2 compound heterozygous mutations identified in patients with fertilization failure or poor fertilization
por: Jin, Jiamin, et al.
Publicado: (2021)

Homozygous Loss of Septin12, but not its Haploinsufficiency, Leads to Male Infertility and Fertilization Failure
por: Chen, Haixia, et al.
Publicado: (2022)

Total fertilization failure with in vitro fertilization-intracytoplasmic sperm injection related to WEE2 mutation highlights emerging importance of genetic causes of in vitro fertilization failure
por: Weiner, Hillary S., et al.
Publicado: (2022)

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure
por: Yang, Lin, et al.
Publicado: (2018)

Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure
por: Yang, Lin, et al.
Publicado: (2018)

Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation
por: Tian, Ye, et al.
Publicado: (2020)

Novel MEI1 compound heterozygous mutation in a sporadic family associated with spermatogenetic failure
por: Chen, Jie, et al.
Publicado: (2022)

Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella
por: Wang, Meng, et al.
Publicado: (2022)

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis
por: Ma, Shiyue, et al.
Publicado: (2018)

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
por: Yang, Bin, et al.
Publicado: (2018)

Diagnosis and Treatment of Male Infertility-Related Fertilization Failure
por: Cardona Barberán, Arantxa, et al.
Publicado: (2020)

Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter
por: Oltvai, Zoltán N., et al.
Publicado: (2020)

Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II
por: Xue, Ying, et al.
Publicado: (2017)

Attitudes of fertile and infertile woman towards new reproductive technologies: a case study of Lithuania
por: Blaževičienė, Aurelija, et al.
Publicado: (2014)

Oocyte-specific Wee1-like protein kinase 2 is dispensable for fertility in mice
por: Nozawa, Kaori, et al.
Publicado: (2023)

A heterozygous ZP2 mutation causes zona pellucida defects and female infertility in mouse and human
por: Liu, Sai-Li, et al.
Publicado: (2023)

Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations
por: Sun, Jian, et al.
Publicado: (2017)

Gene mutations associated with fertilization failure after in vitro fertilization/intracytoplasmic sperm injection
por: Xue, Yamei, et al.
Publicado: (2022)

Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family
por: Gong, Bo, et al.
Publicado: (2015)

Heterozygous mutations in ZP1 and ZP3 cause formation disorder of ZP and female infertility in human
por: Cao, Qiqi, et al.
Publicado: (2020)

A delayed spontaneous second-trimester tubo-abdominal pregnancy diagnosed and managed by laparotomy in a “self-identified” infertile woman, a case report and literature review
por: Zhang, Yanfang, et al.
Publicado: (2023)

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
por: Giardino, Giuliana, et al.
Publicado: (2021)

Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome
por: Matthews, Adam G. W., et al.
Publicado: (2015)

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation()()()
por: Finsterer, Josef, et al.
Publicado: (2016)

Primary microcephaly caused by novel compound heterozygous mutations in ASPM
por: Okamoto, Nobuhiko, et al.
Publicado: (2018)

A new heterozygous compound mutation in the CTSA gene in galactosialidosis
por: Nakajima, Hideki, et al.
Publicado: (2019)

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation
por: Berry, Gerard T.
Publicado: (2017)

A Case of AOA2 With Compound Heterozygous SETX Mutations
por: Chang, Hee Jin, et al.
Publicado: (2022)

Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women
por: Soligo, Adriana de Góes, et al.
Publicado: (2017)

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation
por: Ge, Haixia, et al.
Publicado: (2020)

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report
por: Yang, Kunfang, et al.
Publicado: (2018)

Reconstructive metroplastic myomectomy of an infertile woman
por: Esmailpoor, Nader, et al.
Publicado: (2011)

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation
por: Müller, Eva, et al.
Publicado: (2012)

Air raids and the 'Wee' Hospital.
por: Logan, C. J. H.
Publicado: (2003)

Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations
por: Isaacs, David, et al.
Publicado: (2017)

Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations
por: Millar Vernetti, Patricio, et al.
Publicado: (2020)

Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome
por: Pan, Yun-Di, et al.
Publicado: (2019)

Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
por: Valsassina, Rita, et al.
Publicado: (2020)

Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7
por: Songsantiphap, Chankiat, et al.
Publicado: (2020)

Novel Compound Heterozygous Mutations in Two Families With Bernard–Soulier Syndrome
por: Minkov, Milen, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_2gtd3vacf9nfldmsjocrk13ibp