Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 05 Dec 2025

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy

in Genetics of Common and Rare Diseases

Shaojie Min
Jingwei Sun
Weicheng Chen
Zhiyu Feng
Quannan Zhuang
Yuan Gao
Siyi Lin
Siyu Sun
Yuquan Lu
Shuolin Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1673539

169 views

Case Report

Accepted on 04 Dec 2025

Genotype–Phenotype Correlations in FLNA Mutations: Insights from a Case of Multisystem Dysfunction

in Genetics of Common and Rare Diseases

Jie Liu
Xin Pan
Lina Qiao
Yi Liao
Zhongqiang Liu

Frontiers in Genetics

Case Report

Accepted on 02 Dec 2025

Case Report: UMOD Gene Mutation and Phenotypic Overlap with REN in Autosomal Dominant Tubulointerstitial Kidney Disease

in Genetics of Common and Rare Diseases

Jingying Xu
Enhui Chen
Wen Shi
Wenhui He
Xianfa Li
Dongrong Yu

Frontiers in Genetics

Original Research

Accepted on 02 Dec 2025

Expanding the Mutational Spectrum of Congenital Microcephaly in Pakistani Families

in Genetics of Common and Rare Diseases

Sundas Farooq
Maria Asif
Bonsu Ku
Madiha Shadab
Muzammil Ahmed Khan
Muhammad Muzammal
Raja Waqar
Rameez Nisar
Zahid Latif
Falak Sher Khan

Frontiers in Genetics

Case Report

Accepted on 01 Dec 2025

Familial Multiple Fetal Cerebral Arteriovenous Malformations: A Case Report of Maternal Genetic Susceptibility and Fetal Manifestation

in Genetics of Common and Rare Diseases

Hao Wang
Yan Jiang
Yanlin Chen
Gongli Chen

Frontiers in Genetics

Correction

Published on 01 Dec 2025

Correction: MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer’s disease

in Genetics of Common and Rare Diseases

Yan Zhang
Siwei Chen
Guiying Yan
Zhifei Zhang
Amina
Ting Wang
Shuang Wang
Chen Zhang
Yong’an Sun

Frontiers in Genetics

doi 10.3389/fgene.2025.1749030

382 views

Correction

Published on 01 Dec 2025

Correction: Individual and combined effects of the GSTM1, GSTT1, and GSTP1 polymorphisms on type 2 diabetes mellitus risk: a systematic review and meta-analysis

in Genetics of Common and Rare Diseases

Liang-shu Liu
Di Wang
Ru Tang
Qi Wang
Lu Zheng
Jian Wei
Yan Li
Xiao-feng He

Frontiers in Genetics

doi 10.3389/fgene.2025.1749934

366 views

Original Research

Accepted on 30 Nov 2025

An intronic micro-deletion impacts the transcription and translation of PKD1 gene

in Genetics of Common and Rare Diseases

Xinli Xing
Wei Zheng
Xuejing Sun
Na Wei

Frontiers in Genetics

Original Research

Accepted on 29 Nov 2025

A transcriptomic atlas at bulk and single-cell levels identifies novel transcriptional and splicing regulators of ECM homeostasis in osteoarthritis

in Genetics of Common and Rare Diseases

Xiguang Ye
Chunyan Zheng
Hao Li

Frontiers in Genetics

100 views

Case Report

Published on 28 Nov 2025

Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up

in Genetics of Common and Rare Diseases

Huijuan Lu
Shaojun Liu
Jia Sun
Lijun Mou

Frontiers in Genetics

doi 10.3389/fgene.2025.1672214

493 views

Case Report

Accepted on 27 Nov 2025

Early onset Arboleda-Tham Syndrome due to KAT6A variants: Case report

in Genetics of Common and Rare Diseases

Hongbo Chen
Dan Yu
Shanling Liu
Hanbing Xie
Lina Qiao
Hanmin Liu
Weiran Li

Frontiers in Genetics

Case Report

Published on 27 Nov 2025

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation

in Genetics of Common and Rare Diseases

Andrés León
Alex S. Aguirre
Anna Lindstrand
Marlene Ek
Vanessa I. Romero

Frontiers in Genetics

doi 10.3389/fgene.2025.1662915

638 views

Correction

Published on 27 Nov 2025

Correction: Validation of a genome-wide polygenic score for body mass index in South Asians

in Genetics of Common and Rare Diseases

Ramesh Menon
Nikhat Khan
Sandeep Charugulla
Akshi Bassi
Pooja Dangare
Akshay Dedaniya
Aakanksha Pant
Rammurthy Anjanappa
Praveena L. Samson
Uthra Satagopan

Frontiers in Genetics

doi 10.3389/fgene.2025.1708353

940 views

Original Research

Published on 26 Nov 2025

BAG3-related myofibrillar myopathy: focus on its cardiac involvement

in Genetics of Common and Rare Diseases

Elise Daire
Elena Panaioli
Cyril Gitiaux
Catherine Gardin
Victor Waldmann
Damien Bonnet
Karim Wahbi
Diala Khraiche

Frontiers in Genetics

doi 10.3389/fgene.2025.1636999

692 views

Original Research

Accepted on 25 Nov 2025

Expanding the Spectrum of NUS1-Related Progressive Myoclonic Epilepsy: A novel Variant and Exploratory Use of Metformin

in Genetics of Common and Rare Diseases

Cristina Sau
Sergi López-Rodríguez
Mercè Falip
Anna Esteve Garcia
Jacint Sala-Padró
Cinthia Aguilera
Alba Navarro-Romero
Amaia Lasa-Aranzasti
Laura Rodríguez-Bel
Guillermo Hernández-Pérez

Frontiers in Genetics

101 views

Case Report

Accepted on 24 Nov 2025

Neonatal-Onset Familial Hemophagocytic Lymphohistiocytosis: A Case Report with Genetic Confirmation of PRF1 Mutations

in Genetics of Common and Rare Diseases

Xiaoyun Lyu
Pu Wei
Libo Zhu
Wei Zhang

Frontiers in Genetics