Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 28 Feb 2025

Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay

in Genetics of Common and Rare Diseases

Haoyang Zheng
Gui Chen
Tingting Wang
Weisheng Cheng
Jing Yuan
Fang Liu
Yuanhong Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1512070

748 views

Case Report

Published on 27 Feb 2025

A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in RILPL1

in Genetics of Common and Rare Diseases

Wenjing Wang
Tielun Yin
Xinyu Zhang
Zhaoxia Wang
Tianyun Wang
Shuo Zhang
Yingshuang Zhang
Dongsheng Fan

Frontiers in Genetics

doi 10.3389/fgene.2025.1472907

824 views

Original Research

Published on 21 Feb 2025

LINC00461 SNPs rs933647 and rs201864123 modify the risk of adenoid hypertrophy susceptibility for children in South China

in Genetics of Common and Rare Diseases

Chao Hou
Xilian Luo
Xin Wan
Kaining Chen
Zhongren Xian
Kaixiong Xu
Yingjia Zeng
Chenlu Wang
Wan Yang
Zilin Zheng

Frontiers in Genetics

doi 10.3389/fgene.2025.1509053

683 views

Systematic Review

Published on 20 Feb 2025

Comprehensive systematic review and meta-analysis of the TGF-β1 T869C gene polymorphism and autoimmune disease susceptibility

in Genetics of Common and Rare Diseases

Yawen Zhu
Ai Qian
Yuanyuan Cheng
Ming Li
Chuanbing Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1502921

940 views

Editorial

Published on 18 Feb 2025

Editorial: Recent advances in causes, diagnosis, and therapeutics for congenital heart defects

in Genetics of Common and Rare Diseases

Xinxiu Xu
Cecilia W. Lo
Lisa J. Martin
Lu Han
Dongzhu Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1564492

743 views

Case Report

Published on 17 Feb 2025

Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sisters

in Genetics of Common and Rare Diseases

Xin Li
Yuqi Zhang
Gang Chai
Weijie Su
Yan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1536000

651 views

Original Research

Published on 30 Jan 2025

Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation

in Genetics of Common and Rare Diseases

Xiaojun Wen
Zhiming Li
Lizi Cheng
Jianhong Wei
Wenjuan Yu
Xiufeng Lin
Xiaowu Fang

Frontiers in Genetics

doi 10.3389/fgene.2025.1531697

765 views

Case Report

Published on 30 Jan 2025

Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights

in Genetics of Common and Rare Diseases

Xiaobing Li
Tingqiang Zhang
Xuemei Li
Li Wang
Qian Li
Qianqian Liu
Chengyin He
Li Zhang
Yongsheng Liu
Junling Tang

Frontiers in Genetics

doi 10.3389/fgene.2024.1522204

1,147 views

Case Report

Published on 28 Jan 2025

Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV

in Genetics of Common and Rare Diseases

Eojin Lee
Ja Young Choi
Shin-Seung Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1502756

941 views

Original Research

Published on 27 Jan 2025

The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome

in Genetics of Common and Rare Diseases

Min Xu
Yujie Shi
Li Lin
Liang Wang
Xianzhong Zhu
Jinglin Xiong
Jiawen Yin
Qing Qi
Wenlin Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1475054

796 views

Original Research

Published on 21 Jan 2025

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy

in Genetics of Common and Rare Diseases

Huafang Zou
Qian Zhang
Jianxiang Liao
Dongfang Zou
Zhanqi Hu
Bing Li
Li Chen
Jialun Wen
Xia Zhao
Victor Wei Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1496411

1,242 views

Original Research

Published on 20 Jan 2025

Mutation in the COL2A1 gene is associated with acetabular dysplasia

in Genetics of Common and Rare Diseases

Miaomiao Xin
Xin Guan
Jiangfei Yang
Yi Li
Zhentao Man
Hongsheng Sun
Min Fu

Frontiers in Genetics

doi 10.3389/fgene.2024.1521412

1,322 views

Case Report

Published on 20 Jan 2025

Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report

in Genetics of Common and Rare Diseases

Mingyue Zhuang
Yonglong Xu
Shiyi Zhong
Ziyuan Tian
Qingwu Liu
Dingquan Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1491870

908 views

Brief Research Report

Published on 17 Jan 2025

Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever

in Genetics of Common and Rare Diseases

Rudy Feghali
José-Noel Ibrahim
Nabiha Salem
Romy Moussallem
Ghina Hijazi
Charbel Attieh
Tony Yammine
Alain Chebly

Frontiers in Genetics

doi 10.3389/fgene.2024.1506656

1,384 views
1 citation

Original Research

Published on 15 Jan 2025

Increased cardiac macrophages in Sorbs2-deficient hearts: revealing a potential role for macrophage in responding to embryonic myocardial abnormalities

in Genetics of Common and Rare Diseases

Beibei Hu
Xiangyang Liu
Shanshan Xiong
Qin Gong
Junjie Yang
Hongjun Shi
Min Zhang
Fei Liang
Zhen Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1525931

1,222 views

Case Report

Published on 15 Jan 2025

Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency

in Genetics of Common and Rare Diseases

Haishao Yu
Shuangzhu Lin
Lin Li
Jiayi Li
Qiandui Chen
Yuheng Wu
Yangfan Qi
Wanqi Wang
Xingzhi Chang
Jie Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1478581

1,068 views