Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 14 Aug 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

1,878 views

Original Research

Published on 14 Aug 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

2,374 views

Case Report

Published on 13 Aug 2025

Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?

in Genetics of Common and Rare Diseases

Filippo Mandato
Maria Teresa Di Claudio
Umberto Costantino
Francesca Rovito
Orazio Palumbo
Pietro Palumbo
Angela La Neve
Maura Pugliatti
M. Castori
Massimo Carella

Frontiers in Genetics

doi 10.3389/fgene.2025.1626457

1,995 views

Original Research

Published on 13 Aug 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
Sanguk Kim
Jae Hoon Lee

Frontiers in Genetics

doi 10.3389/fgene.2025.1572966

1,712 views

Editorial

Published on 12 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

1,615 views

Case Report

Published on 11 Aug 2025

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report

in Genetics of Common and Rare Diseases

Anna Μaria Anastasiou
Constantia Aristidou
Athina Theodosiou
Ludmila Kousoulidou
Ioannis Papaevripidou
Angelos Alexandrou
Paola Evangelidou
Carolina Sismani
George A. Tanteles
Despina Sanoudou

Frontiers in Genetics

doi 10.3389/fgene.2025.1585453

3,108 views

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

1,957 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

4,485 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

1,338 views

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

2,174 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

1,632 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

1,715 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

1,945 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

1,824 views

Case Report

Published on 25 Jul 2025

Case Report: Decoding genetic risks of vascular parkinsonism: a case series

in Genetics of Common and Rare Diseases

Ali Shalash
Salma El-Shafie
Peter George
Tamer Roushdy
Mai Fathy
Mohamed H. Yousef
Mahmoud El-Belkimy
Mohamed Ossama Abdulghani
Mohamed Salama

Frontiers in Genetics

doi 10.3389/fgene.2025.1579454

2,274 views

Original Research

Published on 22 Jul 2025

Development and validation of a machine-learning-based model for identification of genes associated with sepsis-associated acute kidney injury

in Genetics of Common and Rare Diseases

Chen Lin
Meng Zheng
Wensi Wu
Zhishan Wang
Guofeng Lu
Shaodan Feng
Xinlan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1561331

2,755 views

Case Report

Published on 21 Jul 2025

Case Report: Pediatric CNS-isolated hemophagocytic lymphohistiocytosis secondary to uniparental disomy of PRF1 mutation

in Genetics of Common and Rare Diseases

Jiao Xue
Zhenfeng Song
Hongshan Zhao
Chengqing Yang
Fei Li
Zhi Yi
Kaixuan Liu
Ying Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1528844

1,581 views

Case Report

Published on 21 Jul 2025

Ultrasound combined with molecular genetics to diagnose hereditary Renpenning syndrome in early pregnancy: a case report

in Genetics of Common and Rare Diseases

Yongmei Shen
Lei Zhang
Yaqi Li
Liying Yao
Jiasong Cao
Qimei Lin
Maolin Nie
Hefei Wang
Rongxin Wei
Ying Chang

Frontiers in Genetics

doi 10.3389/fgene.2025.1575378

1,886 views

Case Report

Published on 17 Jul 2025

Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion

in Genetics of Common and Rare Diseases

Rongbo Lin
Wenhui Zhang
Mingwei Huang
Yansheng Shen
Jianxiang Liao
Ping Song
Ying Qi
Jie He
Yuanxiang Xia
Jing Duan

Frontiers in Genetics

doi 10.3389/fgene.2025.1564711

1,630 views

Original Research

Published on 16 Jul 2025

Genetic subtypes of type 2 diabetes are distinguished through the lens of abdominal MRI

in Genetics of Common and Rare Diseases

Elena P. Sorokin
Madeleine Cule
Marjola Thanaj
Nicolas Basty
Brandon Whitcher
Naveed Sattar
E. Louise Thomas
Jimmy D. Bell
Hanieh Yaghootkar

Frontiers in Genetics

doi 10.3389/fgene.2025.1605721

3,533 views
2 citations

Original Research

Published on 14 Jul 2025

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China

in Genetics of Common and Rare Diseases

Huiwen Zhang
Haoyue Tian
Wencheng Dai
Luhan Zhang
Gang Guo
Guifeng Ding

Frontiers in Genetics

doi 10.3389/fgene.2025.1617418

2,635 views

Original Research

Published on 11 Jul 2025

Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool

in Genetics of Common and Rare Diseases

Katarína Kušíková
Tzung-Chien Hsieh
Mateja Pfeifer
Christine Fauth
Yoshiko Murakami
Franco Laccone
Daniela Karall
Walter Bonfig
Helen Stewart
Denisa Weis

Frontiers in Genetics

doi 10.3389/fgene.2025.1598602

2,163 views

Case Report

Published on 09 Jul 2025

Case Report: The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease

in Genetics of Common and Rare Diseases

Haixia Zhang
Jing Chen
He Wang
Qinqin Xiang
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1498144

1,453 views

Correction

Published on 08 Jul 2025

Correction: A non-invasive method for screening mitochondrial diabetes

in Genetics of Common and Rare Diseases

Hangyu Fang
Xiaoe Li
Shuping Wang
Mei Zhang
Victor Wei Zhang
Chao Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1645252

1,268 views

1,993 articles

articles

Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights

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

Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?

Genetic analysis of non-syndromic peg lateralis using whole-exome sequencing

Editorial: Genetics of non-syndromic hearing loss

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report

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

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

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

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

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

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

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

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

Case Report: Decoding genetic risks of vascular parkinsonism: a case series

Development and validation of a machine-learning-based model for identification of genes associated with sepsis-associated acute kidney injury

Case Report: Pediatric CNS-isolated hemophagocytic lymphohistiocytosis secondary to uniparental disomy of PRF1 mutation

Ultrasound combined with molecular genetics to diagnose hereditary Renpenning syndrome in early pregnancy: a case report

Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion

Genetic subtypes of type 2 diabetes are distinguished through the lens of abdominal MRI

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China

Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool

Case Report: The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease

Correction: A non-invasive method for screening mitochondrial diabetes