Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 11 Apr 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
Xiaoxuan Fan
Xiaoyan Xuan
Xiaoke Zhao

Frontiers in Genetics

doi 10.3389/fgene.2025.1487352

Original Research

Published on 11 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
Enchao Zhou

Frontiers in Genetics

doi 10.3389/fgene.2025.1551450

Original Research

Accepted on 10 Apr 2025

Identification of potential crucial genes and mechanisms associated with Metabolically Unhealthy Obesity based on gene expression profile

in Genetics of Common and Rare Diseases

Qingqing Wang
丝露王
Zhanyu Zhuang
Xueting Wu
Hongkun Gao
Tianyi Zhang
Guorong Zou
Xing Ge
Yapeng Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1540721

Original Research

Published on 09 Apr 2025

Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment

in Genetics of Common and Rare Diseases

Lin Zhou
Farrukhjon Boboev
Hui Chen
Fanwen Jiang
Chun Zhang
Jing Xiao
Hui Jiang
Yongchuan Liao
Zhuping Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1485874

221 views

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

Case Report

Accepted on 08 Apr 2025

Prenatal diagnosis of a compound heterozygous variation in the FBXL4 gene by trio-WES and imaging monitoring: A case report

in Genetics of Common and Rare Diseases

Yujia Zhai
Jing Chen
Shuo Yang
He Wang
Yuanyuan Xiao
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1539288

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

231 views

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

124 views

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

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

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

228 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

295 views