Review
Obstetrics & Gynecology
Mathilde Pujalte, Maite Camo, Noemie Celton, Christophe Attencourt, Elodie Lefranc, Guillaume Jedraszak, Florence Scheffler
Summary: A study found a homozygous missense variant in the ZP1 gene of a 35-year-old female with genuine empty follicle syndrome (gEFS), which hindered the formation of normal oocytes. By comparing her phenotype and genotype with others, appropriate genetic counseling and treatment options, such as switching to a suitable IVF program or oocyte donation program, can be provided for patients with similar symptoms.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2023)
Article
Obstetrics & Gynecology
Liwei Sun, Keya Tong, Weiwei Liu, Yin Tian, Dongyun Liu, Guoning Huang, Jingyu Li
Summary: Whole-exome sequencing was performed in probands with empty follicle syndrome (EFS) and abnormal zona pellucida (ZP), revealing a homozygous nonsense variant in ZP1 associated with EFS, a homozygous frameshift variant in ZP2 triggering protein degradation, and a heterozygous missense variant in ZP3 linked to ZP morphological abnormalities. These findings expand the mutational spectrum of ZP1, ZP2, and ZP3, and provide new evidence for genetic diagnosis of female infertility.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Article
Genetics & Heredity
Na Li, Wanxue Xu, Huimin Liu, Rui Zhou, Siqi Zou, Shiqing Wang, Siyu Li, Zexin Yang, Yongjun Piao, Yunshan Zhang
Summary: Diminished ovarian reserve (DOR) can be caused by factors other than age, and gene mutation may play a role. This study identified a mutated gene, GPR84(Y370H), through whole exome sequencing, which was found to promote inflammation and potentially contribute to the development of DOR. These findings could provide a preliminary research basis for early molecular diagnosis and treatment selection for DOR.
FRONTIERS IN GENETICS
(2023)
Article
Oncology
Lucas W. Thornblade, Paul Wong, Daneng Li, Susanne G. Warner, Sue Chang, Mustafa Raoof, Jonathan Kessler, Arya Amini, James Lin, Vincent Chung, Gagandeep Singh, Yuman Fong, Laleh G. Melstrom
Summary: Cholangiocarcinomas are rare cancers with potentially targetable mutations, and a third of patients undergoing resection in the past decade have had tumor genomic profiling, with 89% harboring targetable mutations. While targeted therapies were identified in most sequenced tumors, only 4% of patients received these therapies, highlighting the potential for precision medicine in the future care of cholangiocarcinoma.
Article
Genetics & Heredity
Na Kong, Qian Xu, Xiaoyue Shen, Xiangyu Zhu, Guangyi Cao
Summary: This study identified a newly discovered genetic locus, the homozygous ZP3(L59H) variant, associated with the occurrence of empty follicle syndrome in female patients. Whole exome sequencing on peripheral blood samples revealed this genetic variant. The findings contribute to a deeper understanding of the role of zona pellucida-related genes in infertility.
FRONTIERS IN GENETICS
(2023)
Article
Medicine, General & Internal
Su-Jung Park, Narae Lee, Seong-Hee Jeong, Mun-Hui Jeong, Shin-Yun Byun, Kyung-Hee Park
Summary: The prevalence of genetic causes in SGA infants without known risk factors was 22%, and targeted-panel sequencing or whole-exome sequencing was effective in diagnosing the etiology of SGA infants without a known cause.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Jing Wang, Xiaoyu Yang, Xueping Sun, Long Ma, Yaoxue Yin, Guoxiang He, Yuan Zhang, Jie Zhou, Lingbo Cai, Jiayin Liu, Xiang Ma
Summary: A novel homozygous nonsense mutation in ZP1 was identified in a family with female infertility characterized by EFS. Bioinformatics analysis predicted the mutation to be pathogenic, resulting in a truncated ZP1 protein that is localized in the cytoplasm of degenerated oocyte. This study expands the genetic spectrum for EFS and helps justify the EFS diagnosis in patients.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Lucia Pia Bruno, Gabriella Doddato, Floriana Valentino, Margherita Baldassarri, Rossella Tita, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Alessandra Fabbiani, Vittoria Lamacchia, Anna Carrer, Valentina Caputo, Stefania Granata, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani
Summary: Intelectual disability (ID) and autism spectrum disorder (ASD) are often associated and characterized by impairments in cognitive processes and daily life tasks. Molecular diagnosis is crucial for improving prognosis and initiating treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Rheumatology
Yiming Luo, Marcela A. Ferrada, Keith A. Sikora, Cameron Rankin, Hugh D. Alessi, Daniel L. Kastner, Zuoming Deng, Mengqi Zhang, Peter A. Merkel, Virginia B. Kraus, Andrew S. Allen, Peter C. Grayson
Summary: This study suggests that rare variants in the DCBLD2 gene may play a role in the development of RP. These findings should be further validated in a larger sample and supported by functional experiments.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Plant Sciences
Hisashi Udagawa, Hiroyuki Ichida, Takanori Takeuchi, Tomoko Abe, Yoshimitsu Takakura
Summary: In this study, a whole-exome sequencing (WES) procedure was developed in tobacco to characterize EMS-induced mutations in a test population, revealing a high number of single nucleotide variants. The amount of mutations detected by WES was 93.5% of those detected by whole-genome sequencing, while requiring significantly less sequencing data, making it a cost-effective tool for high-throughput mutation identification in tobacco.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Endocrinology & Metabolism
Jun Zeng, Ying Sun, Jing Zhang, Xiaozhu Wu, Yan Wang, Ruping Quan, Wanjuan Song, Dan Guo, Shengran Wang, Jianlin Chen, Hongmei Xiao, Hua-Lin Huang
Summary: A novel homozygous nonsense mutation of ZP2 was identified in a patient with thin zona pellucida (ZP) phenotype, leading to natural fertilization failure. The disruption of ZP integrity impaired the TGF-beta signaling pathway between oocytes and granulosa cells, resulting in increased apoptosis and decreased developmental potential of oocytes.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Obstetrics & Gynecology
Tingting Zou, Qingsong Xi, Zhenxing Liu, Zhou Li, Meiqi Hou, Lixia Zhu, Lei Jin, Xianqin Zhang
Summary: In this study, a novel mutation in the ZP1 gene was identified using whole-exome sequencing. The study confirmed the important role of the ZP1 gene in human female reproduction, expanded the mutation spectrum of the gene, and increased its application in the clinical and molecular diagnosis of EFS.
REPRODUCTIVE SCIENCES
(2022)
Article
Developmental Biology
T. Yammine, N. Reynaud, H. Lejeune, F. Diguet, P. A. Rollat-Farnier, A. Labalme, I Plotton, C. Farra, D. Sanlaville, E. Chouery, C. Schluth-Bolard
Summary: Male infertility affects about 7% of the male population, with balanced chromosomal rearrangements being a well-established cause but with unclear underlying pathophysiological mechanisms. This study used a combination of cytogenetic and molecular techniques to identify candidate genes implicated in spermatogenesis defects in three male carriers of different balanced translocations. Breakpoints were characterized at the molecular level, revealing gene disruptions and variations that need further validation for their roles in male infertility. This study emphasizes the importance of combining cytogenetic and molecular techniques to investigate spermatogenesis disorders in patients with structural rearrangements on a genomic scale.
MOLECULAR HUMAN REPRODUCTION
(2021)
Article
Biochemistry & Molecular Biology
Cristina Tous, Carmen Munoz-Redondo, Nereida Bravo-Gil, Angela Gavilan, Raquel Maria Fernandez, Juan Antinolo, Elena Navarro-Gonzalez, Guillermo Antinolo, Salud Borrego
Summary: Thyroid carcinoma (TC) can be classified into medullary (MTC) and non-medullary (NMTC). This study aimed to identify susceptibility genes for familial NMTC and non-RET MTC using whole exome sequencing. Rare candidate segregating variants were found in 12 families, with enriched biological processes related to cell proliferation, differentiation, survival, and adhesion. These findings provide insights into molecular mechanisms underlying familial forms of MTC and NMTC, which may contribute to early detection, tailored therapies, and patient management.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Obstetrics & Gynecology
Ping Yang, Tailai Chen, Yuqing Liu, Zhenzhen Hou, Keliang Wu, Yongzhi Cao, Jiangtao Zhang, Zhao Wang, Han Zhao
Summary: Novel variants of ZP genes were identified in over half of the cohort with GEFS and oocyte degeneration, causing intracellular protein sequestration and failure to assemble ZP filaments, resulting in EFS and female infertility.
FERTILITY AND STERILITY
(2021)