Article
Infectious Diseases
Dan Dang, Ying Liu, Qi Zhou, Heng Li, Ying Wang, Hui Wu
Summary: The study reported a novel IRF8 gene mutation causing IEI in a neonate, characterized by dysfunctional neutrophilia and monocytopenia, leading to recurrent severe infections. The new IRF8 mutation may result in impaired differentiation and development of immune cells, contributing to early-onset infections.
INFECTION GENETICS AND EVOLUTION
(2021)
Article
Pediatrics
Shaoguang Lv, Yuanyuan Wu, Fang Liu, Baoquan Jiao
Summary: This study reports a Chinese neonate with SCDO4, characterized by dyspnea, cleft palate, and short trunk, and identifies a novel HES7 gene variant. The findings provide new evidence for the genetic counseling and treatment of SCDO4.
FRONTIERS IN PEDIATRICS
(2023)
Letter
Clinical Neurology
Rui Ban, Chuanqiang Pu, Fang Fang, Qiang Shi
Summary: SPG78 is a subtype of hereditary spastic paraplegia caused by ATP13A2 gene mutations. While it has been reported as complicated HSP in some cases, it has never been associated with pure HSP. The first Chinese patient carrying a novel homozygous nonsense mutation in ATP13A2 presenting with pure HSP was reported in this study.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Medicine, General & Internal
Miao Pan, Justin Kurtz
Summary: We report a patient with a novel missense variant, p.Glu616Ala, in STAT3 presenting with infantile-onset multisystem autoimmune disease, characterized by autophosphorylation and activation of STAT3.
FRONTIERS IN MEDICINE
(2023)
Article
Pediatrics
Liangshan Li, Xiangmao Bu, Yuhua Ji, Ping Tan, Shiguo Liu
Summary: Cohen syndrome (CS) is a clinically heterogeneous disorder. A novel homozygous splice-site mutation in the VPS13B gene was identified in a CS patient, which resulted in exon skipping and premature in-frame stop codon generation, leading to the CS phenotype.
FRONTIERS IN PEDIATRICS
(2021)
Article
Medicine, General & Internal
Deep Hathi, Soumik Goswami, Nilanjan Sengupta, Arjun Baidya
Summary: Aromatase deficiency is a rare genetic disorder that can result in ambiguous genitalia in female children and maternal virilization during pregnancy.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Health Care Sciences & Services
Yejin Lee, Wonseon Chae, Youn Jung Kim, Jung-Wook Kim
Summary: Two novel LRP6 mutations were identified in non-syndromic oligodontia families, suggesting their potential role in tooth agenesis.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Clinical Neurology
Marcello Scala, Stephanie Efthymiou, Tipu Sultan, Jolien De Waele, Marta Panciroli, Vincenzo Salpietro, Reza Maroofian, Pasquale Striano, Filip Van Petegem, Henry Houlden, Frank Bosmans
Summary: The study identified three biallelic variants in the SCN1B gene that can disrupt normal Na-V channel function in the brain, potentially contributing to the development of Early Infantile Epileptic Encephalopathy 52 (EIEE52).
Article
Medical Laboratory Technology
Boudour Khabou, Manel Hsairi, Lamia Gargouri, Nabil Miled, Veronique Barbu, Faiza Fakhfakh
Summary: The study focused on genetic analysis of two siblings with early-onset intrahepatic cholestasis to provide a molecular explanation for the disease. A novel missense mutation in ABCC2 gene and a substitution in ATP8B1 gene were identified, confirming the diagnosis of DJS in the patients. This underscores the importance of genetic analysis in accurate diagnosis and identifying potential modifiers of phenotype development.
CLINICA CHIMICA ACTA
(2021)
Article
Biochemistry & Molecular Biology
Anna Orlova, Daria Guseva, Oxana Ryzhkova
Summary: This study described a new case of severe dilated cardiomyopathy caused by a frameshift mutation in the CASZ1 gene. The clinical presentation was similar to previous studies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Byeonghyeon Lee, Ha Hyun Song, Ye-Ri Kim, Jong-Heun Kim, Seong Tae Cho, Jeong Ho Lee, Un-Kyung Kim, Jin-Sung Park
Summary: SPG30 is a newly categorized type of HSP caused by variants in the KIF1A gene. Limited studies have described the clinical, electrophysiological, and radiological features of HSP, with variable manifestations. Most pathogenic KIF1A variants affect the motor domain, but some rare variants affect the non-motor domain. We report a rare homozygous autosomal-recessive form of SPG30 in a Korean family, characterized by a progressive, spastic gait. Co-segregation analysis revealed a pathogenic KIF1A variant affecting the non-motor domain. Our case expands the genetic and clinical variability of SPG30, highlighting the need for further studies to confirm its pathogenicity.
Article
Multidisciplinary Sciences
Zinan Z. Zhang, Yu Zhang, Tingyan He, Colin L. Sweeney, Safa Baris, Elif Karakoc-Aydiner, Yikun Yao, Deniz Ertem, Helen F. Matthews, Claudia Gonzaga-Jauregui, Harry L. Malech, Helen C. Su, Ahmet Ozen, Kenneth G. C. Smith, Michael J. Lenardo
Summary: IL-37 mutation in a 4-month-old male from a consanguineous family led to infantile inflammatory bowel disease (I-IBD) with persistent diarrhea. The patient's cells showed increased intracellular IL-37 expression and proinflammatory cytokine production. Insights from this patient suggest a potential role of the IL-18 and IL-37 axis in colonic homeostasis.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemistry & Molecular Biology
Xiaopei Zhou, Qingsong Xi, Weimin Jia, Zhou Li, Zhenxing Liu, Geng Luo, Chenxi Xing, Dazhi Zhang, Meiqi Hou, Huihui Liu, Xue Yang, Yalin Luo, Xuejie Peng, Guihua Wang, Tingting Zou, Lixia Zhu, Lei Jin, Xianqin Zhang
Summary: Male infertility is a global public health problem with complex pathogenic causes. Through whole-exome sequencing, we identified a novel homozygous missense mutation in the ACTL7A gene in two infertile brothers with teratozoospermia. In vitro fertilization and intracytoplasmic sperm injection showed fertilization failure, and further analysis revealed irregular perinuclear theca (PT) and acrosomal ultrastructural defects in the sperm of these patients. The mutation also caused abnormal localization and reduced expression of PLCZ1, which may contribute to the fertilization failure. This study expands the understanding of ACTL7A mutations and provides a basis for genetic counseling.
MOLECULAR GENETICS AND GENOMICS
(2023)
Article
Agriculture, Dairy & Animal Science
Hao Cui, Xinhao Mu, Xin Xu, Jun Ji, Ke Ma, Chaoliang Leng, Lunguang Yao, Yunchao Kan, Yingzuo Bi, Qingmei Xie
Summary: Since 2017, outbreaks of gosling astroviruses (GoAstV) causing gout-related symptoms in geese have threatened China's poultry industry. In this study, tissue samples from goslings with gout symptoms were collected from 14 goose farms in different regions of China, and the infection rate of GoAstV was found to be 100%. The research findings indicate that GoAstVs are evolving in a complex manner and have diverse transmission routes.
Article
Health Care Sciences & Services
Youn Jung Kim, Hong Zhang, Yejin Lee, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, James P. Simmer, Jan C. -C. Hu, Jung-Wook Kim
Summary: Amelogenesis imperfecta (AI) is a genetic condition characterized by various enamel defects. This study used whole exome sequencing to identify genetic mutations causing hypomaturation AI in affected families. Mutational analysis revealed WDR72 mutations as the genetic cause in four families, including novel mutations and a recurrent mutation. These findings expand our knowledge of WDR72 mutations causing hypomaturation AI and improve the accuracy of genetic testing for diagnosing AI caused by WDR72 defects.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
