Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 20 Jun 2025

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting

in Genetics of Common and Rare Diseases

Helena Malmgren
Malin Kvarnung
Peter Gustafsson
Britt-Marie Anderlid
Cecilia Arthur
Jonas Carlsten
Karl De Geer
Emma Ehn
Giedre Grigelioniené
Anna Hammarsjö

Frontiers in Genetics

doi 10.3389/fgene.2025.1580879

680 views

Original Research

Published on 19 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

464 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

466 views

Case Report

Published on 18 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 J. Hes
Philippe Giron

Frontiers in Genetics

doi 10.3389/fgene.2025.1597851

580 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

584 views

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

523 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

929 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

485 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

521 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

649 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

155 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

834 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

2,171 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

785 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

161 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

923 views