Frontiers in Genetics | Genetics of Common and Rare Diseases

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

325 views

Case Report

Accepted on 18 Mar 2025

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

in Genetics of Common and Rare Diseases

Julio Americo Pereira Batatinha
Sorahia Domenice
Miriam Yumie Nishi
Rafael Loch Batista
José Antônio Diniz Faria Júnior
Maria Helena Palma Sircilli
Francisco Tibor Dénes
Maria Jimena Chafloque Mesia
Laura da Silva Salvanini
Elaine Maria Frade Costa

Frontiers in Genetics

doi 10.3389/fgene.2025.1508792

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

437 views

Case Report

Accepted on 17 Mar 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 Maria Napoli
Stefania Corti
Giacomo Pietro Comi
Dario Ronchi

Frontiers in Genetics

doi 10.3389/fgene.2025.1559773

108 views

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

400 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

311 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

479 views

Case Report

Published on 11 Mar 2025

A de novo TNNI3K variant aggravates the pathogenicity of DMD-associated early-onset cardiomyopathy: a case report

in Genetics of Common and Rare Diseases

Di Qie
Yang Zhai
Fan Yang
Yifei Li
Rong Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1525941

376 views

Original Research

Published on 10 Mar 2025

Detection of a novel large fragment deletion in the alpha-globin gene cluster using the CNVplex technology

in Genetics of Common and Rare Diseases

Jianfei Xu
Liang Hu
Lijuan Wen
Xianzhen Cao
Hongyan Xu
Qi Luo
Yuhong Long
Tingyu Ji
Lifang Sun
Fengxiang Wei

Frontiers in Genetics

doi 10.3389/fgene.2025.1518392

422 views

Original Research

Published on 10 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
Yu Zhang
Tian Yu
Qian Zhang
Lei Xu
Victor Wei Zhang
Bin Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1526077

456 views

Case Report

Published on 07 Mar 2025

Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome

in Genetics of Common and Rare Diseases

Wen Li
Mengjie Lin
Jinwei Dao
Li Shi
Wei Yi
Jia Lei
Yaxian Song
Jiaolou Dong
Meiwei Zhao
Yushan Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1523228

434 views

Case Report

Published on 06 Mar 2025

Case report: Clinicopathological characteristics of SASH1 mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis

in Genetics of Common and Rare Diseases

Tingmei Wang
Dong Li
Yunhua Deng

Frontiers in Genetics

doi 10.3389/fgene.2025.1414129

362 views

Original Research

Published on 06 Mar 2025

Association between single nucleotide polymorphisms in EPAS1 and PPARA genes and high altitude polycythemia in Chinese Tibetan population

in Genetics of Common and Rare Diseases

Ziyi Chen
Zhaomei Dong
Rong Zeng
Mengna Xu
Yuanyuan Zhang
Qu Dan
Guangming Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1519108

418 views

Brief Research Report

Published on 05 Mar 2025

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis

in Genetics of Common and Rare Diseases

Elizabeth Gorman
Hongzheng Dai
Yanming Feng
William James Craigen
David C. Y. Chen
Fan Xia
Linyan Meng
Pengfei Liu
Robert Rigobello
Arpita Neogi

Frontiers in Genetics

doi 10.3389/fgene.2025.1488956

1,128 views

Original Research

Published on 05 Mar 2025

Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network

in Genetics of Common and Rare Diseases

Yuanyuan Luo
Yihan Wang
Lin Liu
Feiming Huang
Shiheng Lu
Yan Yan

Frontiers in Genetics

doi 10.3389/fgene.2025.1533567

503 views

Original Research

Published on 05 Mar 2025

Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication

in Genetics of Common and Rare Diseases

Cuiting Peng
Han Chen
Fan Zhou
Hong Yang
Yutong Li
Yuezhi Keqie
Xu Zhao
He Wang
Ting Hu
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1522406

465 views