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[Analysis on trend of hearing changes in infants with p.V37I mutation in gene at different months of age].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
January 2025
To explore the trend of hearing changes in infants with gene p.V37I mutation at different months. The subjects were 54 children（108 ears） with p.
View Article and Find Full Text PDFWhole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
HGG Adv
January 2025
Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. Electronic address:
Article Synopsis
- *This study focused on the genetic causes of HI in the Malian population through whole exome sequencing, uncovering variants in multiple known HI genes and identifying a novel candidate gene, UBFD1.
- *Results showed that 75% of the examined families had identifiable causes for HI, with many variants being newly identified and a case of digenic inheritance observed.
Article Synopsis
- The Roma population, numbering between 10 to 14 million worldwide, faces unique genetic challenges due to a high level of consanguinity, resulting in specific hereditary diseases that are often underdiagnosed.
- Recent clinical evaluations at the ERN CRANIO center in Prague have highlighted various rare genetic disorders, including congenital cataract syndrome and non-syndromic deafness linked to specific genetic mutations.
- This study emphasizes the need for awareness and accurate diagnosis of dental issues that can aid in better treatment and management of these genetic conditions in the Czech Roma community.
Identification and validation of ion channels-related mRNA prognostic signature for glioblastomas.
Medicine (Baltimore)
November 2024
Department of Neurosurgery, Shaoxing People's Hospital, Shaoxing, Zhejiang, China.
Article Synopsis
- Glioblastomas (GBM) are aggressive brain tumors with a poor outlook, prompting research into new biomarkers for potential treatments through analyzing mRNA-seq and clinical data from major databases.
- A risk model was developed based on three ion channel-related genes, which indicated that higher risk scores correlate with increased immune cell infiltration and drug sensitivity for GBM.
- Functional analyses and a regulatory network were constructed to explore gene interactions, revealing that two of the genes (GJB2 and KCNN4) were upregulated in the high-risk group, while another (KCNH6) was downregulated.
Expanded carrier screening for 224 monogenic disease genes in 1,499 Chinese couples: a single-center study.
Clin Chem Lab Med
November 2024
Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, P.R. China.
Objectives: Expanded carrier screening (ECS) is a preventive genetic test that enables couples to know their risk of having a child affected by certain monogenetic diseases. This study aimed to evaluate the carrier frequency for rare monogenic diseases in the general Chinese population and the impacts of ECS on their reproductive decisions and pregnancy outcomes.
Methods: This single-center study was conducted between September 2022 and April 2023.
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