Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 13 Jun 2025

Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review

in Genetics of Common and Rare Diseases

Yueyi Xing
Han Liu
Hua Liu
Xueli Ding
Xue Jing

Frontiers in Genetics

doi 10.3389/fgene.2025.1516562

250 views

Original Research

Accepted on 11 Jun 2025

Shared Pathogenesis in Polycystic Ovaries and Rheumatoid Arthritis: An Analysis of Key Genes and Pathways

in Genetics of Common and Rare Diseases

Yingying Ji
Pengcheng Xia
Yan Wang
Yang Liu
Feng Wang
Fenggang Sun
Qiang Feng
Qingbin Ni
Yi Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1554139

Original Research

Published on 11 Jun 2025

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome

in Genetics of Common and Rare Diseases

Haomiao Li
Shengnan Zhang
Wei Zhou
Chunli Wang
Chunhua Zhu
Sanlong Zhao
Fei Zhao
Zhanjun Jia
Aihua Zhang
Bixia Zheng

Frontiers in Genetics

doi 10.3389/fgene.2025.1564343

234 views

Original Research

Accepted on 10 Jun 2025

Integrating Genome and Transcriptome Analysis to Decipher Balanced Structural Variants in Unsolved Cases of Neurodevelopmental Disorders

in Genetics of Common and Rare Diseases

Simona Mellone
Alice Spano
Denise Vurchio
Giulia Borgonovi
Alessandro Ugonotti
Giulia Paglino
Alba Bianco
Sara Ronzani
Maurizio Siancalepore
Flavia Prodam

Frontiers in Genetics

doi 10.3389/fgene.2025.1603513

Original Research

Published on 10 Jun 2025

Prevalence, spermatozoa, hormonal, and genetic evaluation of rare mosaic klinefelter syndrome patients in southern China

in Genetics of Common and Rare Diseases

Derong Li
Yuqing Lai
Yujuan Liao
Jinjie Pan
Yudi Luo
Yunning Liang
Bowen Luo
Lingling Zhu
Guosheng Deng
Xiang Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1573292

470 views

Case Report

Accepted on 09 Jun 2025

Case Report: incidental Late-Onset Pompe Disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction

in Genetics of Common and Rare Diseases

Monica Sciacco
Sabrina Lucchiari
Letizia Bertolasi
Giacomo Pietro Comi
Stefania Corti
Dario Ronchi

Frontiers in Genetics

doi 10.3389/fgene.2025.1574381

151 views

Original Research

Accepted on 09 Jun 2025

Association of the MUC5B Promoter Polymorphism with Idiopathic Pulmonary Fibrosis in a Lebanese Cohort

in Genetics of Common and Rare Diseases

Antoine MOUAWAD
Eliane CHOUERY
Alain CHEBLY
Nabiha Salem
Sandra Corbani
Maissa Safieddine
Georges Dabar

Frontiers in Genetics

doi 10.3389/fgene.2025.1544864

158 views

Case Report

Accepted on 09 Jun 2025

Case report: Novel Truncating PPM1D Variant in a Dichorionic Diamniotic (DCDA) Twin with Jansen-de Vries Syndrome. An Updated Perspective

in Genetics of Common and Rare Diseases

Francisco J Merida-De la Torre
Javier Porta
Inmaculada Ortiz-Martín

Frontiers in Genetics

doi 10.3389/fgene.2025.1601752

Opinion

Published on 09 Jun 2025

Improving the therapeutic efficacy of gene therapy for duchenne muscular dystrophy (DMD) by evaluating and managing inflammation

in Genetics of Common and Rare Diseases

Kadalraja Raghavan
Nobunao Ikewaki
Senthilkumar Preethy
Samuel J. K. Abraham

Frontiers in Genetics

doi 10.3389/fgene.2025.1569289

1,317 views

Original Research

Accepted on 06 Jun 2025

Application of non-invasive prenatal testing for fetal chromosomal disorders in low-risk pregnancies: a follow-up study in Central China

in Genetics of Common and Rare Diseases

Qiuxiang Huang
Qiao Xu
Meihuan Chen
Wenli Fan
Hailong Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1574775

150 views

Original Research

Published on 06 Jun 2025

Polymorphous corneal dystrophy subtype 3 and keratoconus aggravation after corneal refractive surgery in a three-generation family carrying both ZEB1 and ZNF469 pathogenic variant

in Genetics of Common and Rare Diseases

Qinghong Lin
Xuejun Wang
Xiaoliao Peng
Xiaosong Han
Xiaoyu Zhang
Ling Sun
Yan Wang
Shengtao Liu
Xingtao Zhou

Frontiers in Genetics

doi 10.3389/fgene.2025.1603019

510 views

Original Research

Accepted on 04 Jun 2025

Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review

in Genetics of Common and Rare Diseases

Yefeng Wang
Xinghan Wu
Sha Zhao
Ningan Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1588657

122 views

Case Report

Accepted on 04 Jun 2025

Case report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier

in Genetics of Common and Rare Diseases

Jelle Vlaeminck
Sophie Uyttebroeck
Elke De Schutter
Ann Cordenier
Shauni Wellekens
Erwin Ströker
Kelly De Rooms
Christine Helsen
Frederik Jan Hes
Philippe Giron

Frontiers in Genetics

doi 10.3389/fgene.2025.1597851

152 views

Review

Published on 04 Jun 2025

Emerging perspectives on osteonecrosis of the femoral head: the role of circular RNAs and long non-coding RNAs - a systematic review

in Genetics of Common and Rare Diseases

Feifei Lin
Shicheng Zhou
Min Yi
Qingyu Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1549684

454 views

Original Research

Accepted on 03 Jun 2025

Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders

in Genetics of Common and Rare Diseases

Huijuan Li
Jing Liu
Yingdi Liu
Yaning Liu
Kehui Lu
Juan Wen
Huimin Zhu
Desheng Liang
Zhuo Li
Lingqian Wu

Frontiers in Genetics

doi 10.3389/fgene.2025.1600877

155 views

Review

Published on 02 Jun 2025

The clinical application and challenges of preimplantation genetic testing

in Genetics of Common and Rare Diseases

Fan Zhou
Xinlian Chen
Shanling Liu
Xiaodong Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1599088

521 views