Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 22 Apr 2025

Case report: a case of hypoparathyroidism–sensorineural 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

1,513 views

Original Research

Published on 22 Apr 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

1,645 views

Case Report

Published on 17 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

2,089 views

Original Research

Published on 17 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
Manling Tang
Qiang Xu
Shengwu Duan
Ge Chen
Yan Zhao
Qiongfang Wu
Jia Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1474390

1,818 views

Case Report

Published on 17 Apr 2025

Estrogen-secreting testicular tumors in 46,XY female patients with 17α-hydroxylase/17,20-lyase deficiency: two unusual case reports and a review of the literature

in Genetics of Common and Rare Diseases

Julio Americo Pereira Batatinha
Mirian Yumie Nishi
Rafael Loch Batista
José Antônio Diniz Faria Júnior
Maria Helena Palma Sircili
Francisco Tibor Denes
Maria Jimena Chafloque Mesia
Laura da Silva Salvanini
Elaine Maria Frade Costa
Filomena Marino Carvalho

Frontiers in Genetics

doi 10.3389/fgene.2025.1508792

2,163 views
1 citation

Case Report

Published on 16 Apr 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

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1477518

1,916 views
1 citation

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

2,340 views

Correction

Published on 11 Apr 2025

Corrigendum: 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

1,264 views

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

2,917 views
3 citations

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

3,537 views
1 citation

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

2,158 views
1 citation

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

2,360 views

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

1,897 views

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

2,281 views
1 citation

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

1,943 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

2,159 views
1 citation

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

3,281 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

2,191 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

5,189 views

Case Report

Published on 19 Mar 2025

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3

in Genetics of Common and Rare Diseases

Jingqun Mai
Zhu Zhang
Bocheng Xu
Shanling Liu
He Wang
Hao Wang
Shuo Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1465527

1,691 views

Original Research

Published on 18 Mar 2025

Bioinformatics revealed biomarkers for diagnosis in kidney stones

in Genetics of Common and Rare Diseases

Ziqi He
Chao Song
Zhong Wang
Caitao Dong
Qinhong Jiang
Xi Yu
Guang Shan

Frontiers in Genetics

doi 10.3389/fgene.2025.1542840

3,467 views
1 citation

Case Report

Published on 14 Mar 2025

Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele

in Genetics of Common and Rare Diseases

Akash Mathavan
Akshay Mathavan
Urszula Krekora
Adityanarayan Rao
Marc S. Zumberg
Jeb Justice
Pinar Bayrak-Toydemir
Jamie McDonald
Ali Ataya

Frontiers in Genetics

doi 10.3389/fgene.2025.1554624

2,065 views

Correction

Published on 13 Mar 2025

Corrigendum: Case report and literature review: delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene

in Genetics of Common and Rare Diseases

Lixue Ouyang
Fan Yang
Hongyu Duan
Chuan Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1589037

969 views

Case Report

Published on 12 Mar 2025

Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in SETBP1: a case report and literature review

in Genetics of Common and Rare Diseases

Zhuo Wei
Liying Yao
Lei Zhang
Shanshan Li
Meiyi Xu
Dan Wu
Wen Li
Ying Chang

Frontiers in Genetics

doi 10.3389/fgene.2025.1463485

2,069 views

1,993 articles

articles

Case report: a case of hypoparathyroidism–sensorineural deafness–renal dysplasia syndrome

Novel ACAD8 variants identified in Isobutyryl-CoA dehydrogenase deficiency: challenges in phenotypic variability and management

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

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

Estrogen-secreting testicular tumors in 46,XY female patients with 17α-hydroxylase/17,20-lyase deficiency: two unusual case reports and a review of the literature

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

A novel nonsense mutation in SCAF4 associated with fliedner-zweier syndrome: a case report and review of the literature

Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases

Identification of cellular senescence-related genes as biomarkers for lupus nephritis based on bioinformatics

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

Identification of signature genes and relationship with immune cell infiltration in intervertebral disc degeneration

A novel DNM2 variant associated with centronuclear myopathy: a case report

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria

Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center

Etiology and clinical features of Han Chinese patients with Duane retraction syndrome

Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus

Identified five variants in CFTR gene that alter RNA splicing by minigene assay

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

Congenital heart disease presentations in the 15q11.2 microdeletion syndrome

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3

Bioinformatics revealed biomarkers for diagnosis in kidney stones

Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele

Corrigendum: Case report and literature review: delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene

Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in SETBP1: a case report and literature review