Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 21 Nov 2025

Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review

in Genetics of Common and Rare Diseases

Ekaterina Nuzhnaya
Tatiana Cherevatova
Ekaterina Lotnik
Aleksandra Shagiazdanova
Zhanna Markova
Ekaterina Filimonova
Olga Parshina
Anastasiia Buianova
Anastasia Bobreshova
Andrey Marakhonov

Frontiers in Genetics

doi 10.3389/fgene.2025.1670664

292 views

Original Research

Accepted on 20 Nov 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

Correction

Accepted on 20 Nov 2025

Corrigendum to: 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

Liangshu Liu
Di Wang
Ru Tang
Qi Wang
Lu Zheng
Jian Wei
Yan Li
Xiao-Feng He

Frontiers in Genetics

Opinion

Published on 20 Nov 2025

Why all MODY variants in transcription factor genes are dominantly inherited

in Genetics of Common and Rare Diseases

Roman Zug

Frontiers in Genetics

doi 10.3389/fgene.2025.1690468

587 views

Case Report

Accepted on 19 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

Correction

Accepted on 19 Nov 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
Yongan Sun

Frontiers in Genetics

Original Research

Published on 19 Nov 2025

FTO rs9939609 and rs17817449 polymorphisms contribute to metabolic syndrome risk by increasing triglyceride and glucose levels

in Genetics of Common and Rare Diseases

Yongyan Song
Ting Wang
Mi Su
Xue Wang
Youjin Zhang
Jia Pan
Yunhan Wang
Jin Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1659460

425 views

Case Report

Published on 18 Nov 2025

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.2025.1645068

441 views

Original Research

Published on 17 Nov 2025

Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutations in a fetus

in Genetics of Common and Rare Diseases

Shanshan Zhai
Limin Yuan
Jing Li
Ling Liu
Lulu Hu
Yanjie Ban
Xuewen Yang
Jie Yang
Xuezhe Ouyang
Nana Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1700635

446 views

Original Research

Published on 17 Nov 2025

Potential marker genes for psoriasis revealed based on single-cell sequencing and Mendelian randomization analysis

in Genetics of Common and Rare Diseases

Ying Dong
Hong-Song Ge
Rui-Xue Chang
Jing Chu

Frontiers in Genetics

doi 10.3389/fgene.2025.1634874

899 views

Case Report

Published on 14 Nov 2025

Familial Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome: a case report

in Genetics of Common and Rare Diseases

Xiang Li
Yuan-Mei Peng
Bo-Wen Luo
Yu-Di Luo
Yun-Rong Qin
Keng Feng
De-Rong Li
Zeng-Yu Yang
Ling-Ling Zhu
Jin-Jie Pan

Frontiers in Genetics

doi 10.3389/fgene.2025.1514856

855 views

Original Research

Published on 14 Nov 2025

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up

in Genetics of Common and Rare Diseases

Panpan Xiao
Yonghua Gu
Xiaolong Qi
Ting Li
Tingting Zuo
Yule Xie
Shuang Zhang
Xunlun Sheng

Frontiers in Genetics

doi 10.3389/fgene.2025.1693876

482 views

Case Report

Published on 14 Nov 2025

Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the SPTB gene that causes hereditary spherocytosis with hemolytic anemia

in Genetics of Common and Rare Diseases

Ke Cao
Xiaojuan Luo
Lianlian Liu
Xiaoning Mao
Ruping Liu
Yunsheng Chen
Santasree Banerjee

Frontiers in Genetics

doi 10.3389/fgene.2025.1626155

584 views

Case Report

Published on 12 Nov 2025

Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH–SCKS in a Chinese pregnant woman across two consecutive pregnancies

in Genetics of Common and Rare Diseases

Tao Zhang
Hua Yuan
Xiaoliang Shi
Yao He
Haitao Pan
Yongxing Zhong
Jintang Zhang
Zhen Yang
Yunyan Ke
Yan Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1646297

627 views

Original Research

Published on 12 Nov 2025

Computational-experimental strategy identifies Co-upregulated biomarkers linking coronary heart disease and type 2 diabetes pathogenesis

in Genetics of Common and Rare Diseases

Wei Li
Yu Cao
Chen Yu
Bingjun Che
Miao He
Dongbiao Li
Lihong Jiang
Lijing Ma

Frontiers in Genetics

doi 10.3389/fgene.2025.1673303

518 views

Original Research

Published on 11 Nov 2025

Germline activating sequence variations in RASopathy spectrum genes: genotype–phenotype correlation in a North Indian cohort

in Genetics of Common and Rare Diseases

Shifali Gupta
Priyanka Srivastava
Roshan Daniel
Chitra Bhardwaj
Parminder Kaur
Pratibha Bawa
Anu Kumari
Ravi Pratap Singh Bhadoriya
Mrinali Peters
Anupriya Kaur

Frontiers in Genetics

doi 10.3389/fgene.2025.1677143

936 views