Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 11 Mar 2025

A de novo TNNI3K variant aggravates the pathogenicity of DMD-associated early-onset cardiomyopathy: a case report

in Genetics of Common and Rare Diseases

Di Qie
Yang Zhai
Fan Yang
Yifei Li
Rong Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1525941

1,783 views
1 citation

Original Research

Published on 10 Mar 2025

Detection of a novel large fragment deletion in the alpha-globin gene cluster using the CNVplex technology

in Genetics of Common and Rare Diseases

Jianfei Xu
Liang Hu
Lijuan Wen
Xianzhen Cao
Hongyan Xu
Qi Luo
Yuhong Long
Tingyu Ji
Lifang Sun
Fengxiang Wei

Frontiers in Genetics

doi 10.3389/fgene.2025.1518392

1,987 views

Original Research

Published on 10 Mar 2025

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases

in Genetics of Common and Rare Diseases

Xuejun Ouyang
Dazhi Chi
Yu Zhang
Tian Yu
Qian Zhang
Lei Xu
Victor Wei Zhang
Bin Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1526077

2,089 views

Case Report

Published on 07 Mar 2025

Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome

in Genetics of Common and Rare Diseases

Wen Li
Mengjie Lin
Jinwei Dao
Li Shi
Wei Yi
Jia Lei
Yaxian Song
Jiaolou Dong
Meiwei Zhao
Yushan Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1523228

2,731 views

Case Report

Published on 06 Mar 2025

Case report: Clinicopathological characteristics of SASH1 mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis

in Genetics of Common and Rare Diseases

Tingmei Wang
Dong Li
Yunhua Deng

Frontiers in Genetics

doi 10.3389/fgene.2025.1414129

1,411 views

Original Research

Published on 06 Mar 2025

Association between single nucleotide polymorphisms in EPAS1 and PPARA genes and high altitude polycythemia in Chinese Tibetan population

in Genetics of Common and Rare Diseases

Ziyi Chen
Zhaomei Dong
Rong Zeng
Mengna Xu
Yuanyuan Zhang
Qu Dan
Guangming Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1519108

2,178 views
1 citation

Brief Research Report

Published on 05 Mar 2025

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis

in Genetics of Common and Rare Diseases

Elizabeth Gorman
Hongzheng Dai
Yanming Feng
William James Craigen
David C. Y. Chen
Fan Xia
Linyan Meng
Pengfei Liu
Robert Rigobello
Arpita Neogi

Frontiers in Genetics

doi 10.3389/fgene.2025.1488956

8,930 views
2 citations

Original Research

Published on 05 Mar 2025

Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network

in Genetics of Common and Rare Diseases

Yuanyuan Luo
Yihan Wang
Lin Liu
Feiming Huang
Shiheng Lu
Yan Yan

Frontiers in Genetics

doi 10.3389/fgene.2025.1533567

2,647 views
3 citations

Original Research

Published on 05 Mar 2025

Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication

in Genetics of Common and Rare Diseases

Cuiting Peng
Han Chen
Fan Zhou
Hong Yang
Yutong Li
Yuezhi Keqie
Xu Zhao
He Wang
Ting Hu
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1522406

2,354 views

Case Report

Published on 28 Feb 2025

Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review

in Genetics of Common and Rare Diseases

Yao Wang
Jing Guo
Peiqi Zhang
Fang Liu
Hua Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1528563

2,010 views

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

2,393 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

2,485 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

1,822 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

2,804 views
2 citations

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

2,038 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

1,653 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

1,443 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

2,970 views
3 citations

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

1,950 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

2,169 views
3 citations

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

3,725 views
5 citations

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

2,785 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

3,519 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

3,616 views
7 citations

1,993 articles

articles

A de novo TNNI3K variant aggravates the pathogenicity of DMD-associated early-onset cardiomyopathy: a case report

Detection of a novel large fragment deletion in the alpha-globin gene cluster using the CNVplex technology

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases

Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome

Case report: Clinicopathological characteristics of SASH1 mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis

Association between single nucleotide polymorphisms in EPAS1 and PPARA genes and high altitude polycythemia in Chinese Tibetan population

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis

Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network

Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication

Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review

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

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

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

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

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

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

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

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

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

The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome

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

Mutation in the COL2A1 gene is associated with acetabular dysplasia

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

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