Frontiers in Genetics | Genetics of Common and Rare Diseases

Brief Research Report

Published on 08 Aug 2025

A unique case of late-onset CIPO caused by a missense mutation in the long isoform of FLNA

in Genetics of Common and Rare Diseases

Ilaria D’Amato
Enrico Ganguzza
Guido Basilisco
Alessia Strippoli
Erika Salvi
Elkadia Mehmeti
Federica Chiappori
Grazia Devigili
Maurizio Vecchi
Giuseppe Lauria

Frontiers in Genetics

doi 10.3389/fgene.2025.1611614

358 views

Original Research

Published on 08 Aug 2025

Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry

in Genetics of Common and Rare Diseases

Zahra Chavoshzadeh
Shahrzad Fallah
Vahide Zeinali
Samin Sharafian
Samaneh Delavari
Mehrnaz Mesdaghi
Reda Djidjik
Brahim Belaid
Aydan Ikinciogullari
Sule Haskologlu

Frontiers in Genetics

doi 10.3389/fgene.2025.1584681

883 views

Original Research

Published on 08 Aug 2025

Identification and splicing analysis of the first deep intronic FIG4 variant causing Yunis–Varon syndrome

in Genetics of Common and Rare Diseases

Hui Tang
Qingqing Chen
Jingjing Xiang
Qin Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1624122

299 views

Case Report

Accepted on 06 Aug 2025

A rare intronic c.2654+1G>A mutation in CSF1R-microglial encephalopathy: a case report

in Genetics of Common and Rare Diseases

HongYan Wu
Jingyu Shi
Xiaoshan Wang
Mei Yang
Jing Cai

Frontiers in Genetics

doi 10.3389/fgene.2025.1593964

Original Research

Published on 06 Aug 2025

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures

in Genetics of Common and Rare Diseases

Jing Chen
Wei Su
Dan Gao
Fangfang Liu
Shuang Chen
Wenhan Zhang
Min Peng
Tao Lei
Hongmin Zhu

Frontiers in Genetics

doi 10.3389/fgene.2025.1591551

504 views

Original Research

Published on 05 Aug 2025

Identification of immune-related diagnostic genes and immune cell infiltration in aseptic loosening of prostheses after total hip arthroplasty by integrated bioinformatics analysis and experimental confirmation

in Genetics of Common and Rare Diseases

Yunke Liu
Xiaming Liang
Shuo Qiang
Yonghui Dong
Xin Zhao
Lichao Ma
Zhihua Yan
Songkai Yue
Yifan Huang
Jia Zheng

Frontiers in Genetics

doi 10.3389/fgene.2025.1597219

358 views

Editorial

Accepted on 01 Aug 2025

Editorial: Rare Diseases Research and Diagnosis in Low-and Middle-Income Countries

in Genetics of Common and Rare Diseases

Claudia Gonzaga-Jauregui
Ferran Casals
Vajira HW Dissanayake

Frontiers in Genetics

doi 10.3389/fgene.2025.1675361

216 views

Editorial

Accepted on 01 Aug 2025

Editorial: Genetics of Non-Syndromic Hearing Loss

in Genetics of Common and Rare Diseases

Caio Robledo D' Angioli Costa Quaio
Saba Battelino

Frontiers in Genetics

doi 10.3389/fgene.2025.1665942

214 views

Original Research

Accepted on 30 Jul 2025

The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China

in Genetics of Common and Rare Diseases

Chunrong Gui
Zifeng Cheng
Yongsheng Chen
Yunting Ma
Hongfei Chen
Wei Wei
Xianda Wei
Juliang Liu
Xu Zhou
Qianqian Du

Frontiers in Genetics

doi 10.3389/fgene.2025.1622391

154 views

Original Research

Published on 30 Jul 2025

Exploration of potential biomarkers and immune cell infiltration characteristics for peripheral atherosclerosis in sjögren’s syndrome based on comprehensive bioinformatics analysis and machine learning

in Genetics of Common and Rare Diseases

Chunjiang Liu
Yuan Wang
Lina Zhou
Feifei Cai
Xiaoqi Tang
Liying Wang
Xiang Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1546315

563 views

Original Research

Accepted on 29 Jul 2025

Pseudohypoparathyroidism Type 1B Mimicking Gitelman Syndrome: Diagnostic Pitfalls and Molecular Insights

in Genetics of Common and Rare Diseases

Yiming Zhao
Lijun Mou
Oumayma Akaaboune
Jiudan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1638472

123 views

Original Research

Accepted on 29 Jul 2025

Genetic Analysis of Non-syndromic Peg Lateralis Using Whole-Exome Sequencing

in Genetics of Common and Rare Diseases

Junglim Choi
Sungnam Kim
Hyunsoo Ahn
Donghyo Kim
Sung-Won Cho
Jae Hoon Lee
Sanguk Kim

Frontiers in Genetics

doi 10.3389/fgene.2025.1572966

149 views

Original Research

Accepted on 29 Jul 2025

Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing

in Genetics of Common and Rare Diseases

Hongwei Li
Yongjun He
Yong Wu
Lanxin Liu
Wei Du
Duika Wang
Zeng He
Liming Zhao

Frontiers in Genetics

doi 10.3389/fgene.2025.1592306

221 views

Original Research

Accepted on 29 Jul 2025

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.2025.1603542

228 views

Case Report

Published on 29 Jul 2025

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review

in Genetics of Common and Rare Diseases

Leonardo Affronte
Antonella Pini
Claudia Pizzoli
Emanuele Coccia
Serena Mazzone
Arber Golemi
Melania Giannotta
Duccio Maria Cordelli
Valerio Carelli
Alessandro Vaisfeld

Frontiers in Genetics

doi 10.3389/fgene.2025.1588812

655 views

Original Research

Published on 28 Jul 2025

Identification of key modules and hub genes for sepsis-induced myopathy using weighted gene co-expression network analysis

in Genetics of Common and Rare Diseases

Siming Lin
Kexin Cai
Ai Chen
Weibin Wu
Guili Lian
Shaodan Feng
Zhihong Lin
Liangdi Xie

Frontiers in Genetics

doi 10.3389/fgene.2025.1607575

645 views