Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Accepted on 02 Apr 2025

Identification of a Novel Missense Variant in the LMX1B Gene Associated with Nail-Patella Syndrome in a Chinese Family

in Genetics of Common and Rare Diseases

Qian Sun
Yaqiong Ren
Wen Zheng
Guanghao Su
Xiaodong Wang
Hongying Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1574076

Case Report

Accepted on 02 Apr 2025

CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report

in Genetics of Common and Rare Diseases

Tanguy Demaret
Damien Feret
Barbara Lambert
Delphine Pranger
Jean-Louis Dargent
Maria Dolores Martin-Martinez
Antonio Renda
Isabelle Maystadt

Frontiers in Genetics

doi 10.3389/fgene.2025.1575651

Original Research

Accepted on 02 Apr 2025

Identification of a novel homozygous SLC13A5 nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay

in Genetics of Common and Rare Diseases

Hua He
Lijuan Long
Man-ling Tang
Qiang Xu
Shengwu Duan
Ge Chen
Yan Zhao
Qiongfang Wu
Jia Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1474390

Original Research

Accepted on 01 Apr 2025

Identification of Cellular Senescence-related genes as biomarkers for lupus nephritis based on bioinformatics

in Genetics of Common and Rare Diseases

Wei Chen
Xiaofang Wang
Guoshun Huang
Qin Sheng
Zhou Enchao

Frontiers in Genetics

doi 10.3389/fgene.2025.1551450

Case Report

Accepted on 31 Mar 2025

A novel SIGMAR1 missense mutation leads to distal hereditary motor neuropathy phenotype mimicking juvenile ALS: a case report of China

in Genetics of Common and Rare Diseases

Junhui Wang
Qinglong Yu
Risna Begam Mohammed Nazar
Sihui chen
Qiaoling Qian
Xueping Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1477518

Case Report

Accepted on 31 Mar 2025

A case of hypoparathyroidismsensorineural deafness-renal dysplasia syndrome

in Genetics of Common and Rare Diseases

Jinyan Yang
Yanjie Mei
Feifei Tang
Xinhong Guo
Yanhua Kong
Ying Deng

Frontiers in Genetics

doi 10.3389/fgene.2025.1501427

Case Report

Accepted on 31 Mar 2025

A Novel nonsense mutation in SCAF4 associated with Fliedner-Zweier syndrome: a case report and review of the literature

in Genetics of Common and Rare Diseases

Zhengfang Chen
Jing Zhao
Xiao Xuan Fan
Xiaoyan Xuan
Xiaoke Zhao

Frontiers in Genetics

doi 10.3389/fgene.2025.1487352

Original Research

Accepted on 31 Mar 2025

Novel ACAD8 Variants Identified in Isobutyryl-CoA Dehydrogenase Deficiency: Challenges in Phenotypic Variability and Management

in Genetics of Common and Rare Diseases

Yilun Tao
Dong Han
Jianfang Li
Xiaoyun Li
Luna Hao
Wenxia Song
Lihong Wang
Xiaoze Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1532902

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

155 views

Correction

Accepted on 28 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.2025.1592212

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

227 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

189 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

244 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

381 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

318 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

421 views