Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 18 Jun 2025

Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome

in Genetics of Common and Rare Diseases

Ruoying Wei
Kaihui Zhang
Chen Liu
Xuxia Wei
Qin Jiang
Ji-an Li
Meiling Huo
Yinggang Liu
Mohnad Abdalla
Li-an Du

Frontiers in Genetics

doi 10.3389/fgene.2025.1603782

465 views

Case Report

Published on 18 Jun 2025

Case Report: A case of ALS type 6 associated with a FUS gene variant and right limb muscle weakness and atrophy as the initial symptom

in Genetics of Common and Rare Diseases

Xiuping Zhan
Tingting Xuan
Xiaoyan Chen
Jianhang He
Yazhou Ren
Yue Meng
Guisheng Chen
Haining Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1578249

437 views

Brief Research Report

Published on 18 Jun 2025

Novel causative RYR2 indel variant with exon and intron involvement inducing exon 13 skipping in a family exhibiting catecholaminergic polymorphic ventricular tachycardia

in Genetics of Common and Rare Diseases

Ju Hyeon Shin
Taek Kyu Park
Sung-A. Chang
Shin Yi Jang
June Huh
Chang Ahn Seol
Kyoung-Jin Park
Sung Hoon Kim
Duk-Kyung Kim
Hye Bin Gwag

Frontiers in Genetics

doi 10.3389/fgene.2025.1581535

531 views

Original Research

Published on 18 Jun 2025

Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa

in Genetics of Common and Rare Diseases

Qi Luo
Juan Huang
Lu Shi
Guanghong Zhang
Linping Xue
Kehu Wu
Xiaoyu Li
Lei Yang
Dujun Li
Liangwei Mao

Frontiers in Genetics

doi 10.3389/fgene.2025.1516872

702 views

Original Research

Published on 18 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

429 views

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

376 views

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

418 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

148 views

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

635 views

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

1,747 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

590 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

153 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

695 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

951 views

Brief Research Report

Published on 02 Jun 2025

Autosomal dominant myopathy caused by a novel ISCU variant

in Genetics of Common and Rare Diseases

Joanna M. Rusecka
Camilla Ceccatelli Berti
Dominika Szczęśniak
Małgorzata Bednarska-Makaruk
Magdalena Mroczek
Magdalena M. Kacprzak
Agnieszka Sobczyńska-Tomaszewska
Paola Goffrini

Frontiers in Genetics

doi 10.3389/fgene.2025.1605440

695 views

Original Research

Published on 30 May 2025

Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype–phenotype analysis in a Saudi tertiary center

in Genetics of Common and Rare Diseases

Suzan Suliman Alhumaidi
Fahad Abdulrahman Algaeed
Meshari Fayez Aladhadh
Sara Abdulrahman Alkaff

Frontiers in Genetics

doi 10.3389/fgene.2025.1584817

839 views