Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 09 Apr 2025

Identification of signature genes and relationship with immune cell infiltration in intervertebral disc degeneration

in Genetics of Common and Rare Diseases

Kun Mu
JingChao Geng
Yu Dong
Wei Guo

Frontiers in Genetics

doi 10.3389/fgene.2025.1551124

1,071 views

Case Report

Published on 07 Apr 2025

A novel DNM2 variant associated with centronuclear myopathy: a case report

in Genetics of Common and Rare Diseases

Martina Rimoldi
Daniele Velardo
Simona Zanotti
Michela Ripolone
Roberto Del Bo
Patrizia Ciscato
Laura Napoli
Stefania Corti
Giacomo Pietro Comi
Dario Ronchi

Frontiers in Genetics

doi 10.3389/fgene.2025.1559773

1,050 views

Original Research

Published on 31 Mar 2025

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria

in Genetics of Common and Rare Diseases

Ning Jia
Yusupu Yimin
Ming Li
Long Jiang
Yeqiang Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1486595

946 views

Original Research

Published on 28 Mar 2025

Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center

in Genetics of Common and Rare Diseases

Ferruccio Romano
Patrizia De Marco
Giulia Amico
Marisa Mallamaci
Marco Pavanello
Gianluca Piatelli
Marcello Scala
Federico Zara
Francesca Faravelli
Mariasavina Severino

Frontiers in Genetics

doi 10.3389/fgene.2025.1430657

1,194 views

Original Research

Published on 27 Mar 2025

Etiology and clinical features of Han Chinese patients with Duane retraction syndrome

in Genetics of Common and Rare Diseases

Lijuan Huang
Baoying Chen
Chi Cai
Yuyu Wu
Zhimin Sun
Yan Xie
Ningdong Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1500090

829 views

Original Research

Published on 25 Mar 2025

Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus

in Genetics of Common and Rare Diseases

Qinghong Lin
Xuejun Wang
Xiaoliao Peng
Tian Han
Ling Sun
Xiaoyu Zhang
Xingtao Zhou

Frontiers in Genetics

doi 10.3389/fgene.2025.1497915

1,159 views

Original Research

Published on 20 Mar 2025

Identified five variants in CFTR gene that alter RNA splicing by minigene assay

in Genetics of Common and Rare Diseases

Bingying Zhang
Yiyin Zhang
Yan Zhang
Xuyan Liu
Ran Zhang
Zhi Wang
Fengjiao Pan
Ning Xu
Leping Shao

Frontiers in Genetics

doi 10.3389/fgene.2025.1543623

1,561 views

Original Research

Published on 19 Mar 2025

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7

in Genetics of Common and Rare Diseases

Juan Zhu
Hong-Ping Yu
Jing Zou
Yi-Wu Zhang
Xin-Qi Han
Zi-Yan Xu
Li Chen
Qian Chen
Mei-Zhu Gao
Li-Jun Xie

Frontiers in Genetics

doi 10.3389/fgene.2025.1514610

986 views

Case Report

Published on 19 Mar 2025

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3

in Genetics of Common and Rare Diseases

Jingqun Mai
Zhu Zhang
Bocheng Xu
Shanling Liu
He Wang
Hao Wang
Shuo Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1465527

1,069 views

Mini Review

Published on 19 Mar 2025

Congenital heart disease presentations in the 15q11.2 microdeletion syndrome

in Genetics of Common and Rare Diseases

Claudia-Ioana Fifirig
Sabu Abraham
Bernard Keavney
Kathryn E. Hentges

Frontiers in Genetics

doi 10.3389/fgene.2025.1535732

1,553 views

Original Research

Published on 18 Mar 2025

Bioinformatics revealed biomarkers for diagnosis in kidney stones

in Genetics of Common and Rare Diseases

Ziqi He
Chao Song
Zhong Wang
Caitao Dong
Qinhong Jiang
Xi Yu
Guang Shan

Frontiers in Genetics

doi 10.3389/fgene.2025.1542840

1,710 views

Case Report

Published on 14 Mar 2025

Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele

in Genetics of Common and Rare Diseases

Akash Mathavan
Akshay Mathavan
Urszula Krekora
Adityanarayan Rao
Marc S. Zumberg
Jeb Justice
Pinar Bayrak-Toydemir
Jamie McDonald
Ali Ataya

Frontiers in Genetics

doi 10.3389/fgene.2025.1554624

1,185 views

Correction

Published on 13 Mar 2025

Corrigendum: Case report and literature review: delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene

in Genetics of Common and Rare Diseases

Lixue Ouyang
Fan Yang
Hongyu Duan
Chuan Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1589037

638 views

Case Report

Published on 12 Mar 2025

Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in SETBP1: a case report and literature review

in Genetics of Common and Rare Diseases

Zhuo Wei
Liying Yao
Lei Zhang
Shanshan Li
Meiyi Xu
Dan Wu
Wen Li
Ying Chang

Frontiers in Genetics

doi 10.3389/fgene.2025.1463485

1,114 views

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

965 views

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

978 views