Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Accepted on 17 Oct 2025

Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers-Danlos syndrome

in Genetics of Common and Rare Diseases

Anna Junkiert-Czarnecka
Karolina Maciak
Magdalena Kacprzak
Agnieszka Łobodzińska
Agnieszka Sobczyńska-Tomaszewska
Aneta Jurkiewicz
Monika Gora
Beata Burzynska
Maria Pilarska-Deltow
Olga HAUS

Frontiers in Genetics

doi 10.3389/fgene.2025.1689587

Review

Accepted on 17 Oct 2025

Gene Therapy for Disorders of Sex Development: Current Applications and Future Challenges

in Genetics of Common and Rare Diseases

Wenyuan Peng
Qian Zhao
Jiali Chen
Huifang Peng
Hongwei Jiang

Frontiers in Genetics

doi 10.3389/fgene.2025.1661127

119 views

Original Research

Published on 17 Oct 2025

Genetic and clinical landscape of Duchenne muscular dystrophy in Guatemala: insights from a national study

in Genetics of Common and Rare Diseases

M. Orozco
E. Kestler
G. Ramirez
G. Silva
J. Cabrera
S. De la Vega
A. Al Khleifat

Frontiers in Genetics

doi 10.3389/fgene.2025.1595423

478 views

Case Report

Published on 17 Oct 2025

Case Report: von Hippel-Lindau (VHL) disease: a young female presenting with multiple organ tumors

in Genetics of Common and Rare Diseases

Jingyuan Li
Yun Ti
Xiao Yang
Keqiang Yan
Tongshuai Chen
Tao Guo
Qin Hu
Cheng Zhang
Peili Bu

Frontiers in Genetics

doi 10.3389/fgene.2025.1676039

518 views

Case Report

Accepted on 16 Oct 2025

WHOLE-EXOME SEQUENCING REVEALS COMPOUND HETEROZYGOUS VARIANTS IN THE EIF2B5 GENE IN A FAMILIAL CASE OF VANISHING WHITE MATTER

in Genetics of Common and Rare Diseases

Sofia Savy
Francisco A. Montes
Carola L. Grosso
Laura E. Laróvere
Silene M. Silvera-Ruiz
Gerardo H. Carro
Guillermo Guelbert
Adriana Becerra
David Morales
Juan Pablo Nicola

Frontiers in Genetics

doi 10.3389/fgene.2025.1688885

Original Research

Published on 16 Oct 2025

A novel deletion upstream of POU3F4 in a Chinese family with X-linked deafness 2 and a literature review

in Genetics of Common and Rare Diseases

Yanting Yang
Shengwen Huang
Yao Liu
Dan Mu
Ting Bai
Xiaosha Jing
Lingling Xing
Hongqian Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1641999

746 views

Original Research

Published on 16 Oct 2025

Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia

in Genetics of Common and Rare Diseases

Abdulrahman Hummadi
Dhayf Alrahman Mutawwam
Babajan Banaganapalli
Fai Alsubhi
Naji J. Aljohani
Ali J. Alhagawy
Turki Algohani
Ibrahim Fallatah
Mohammed Y. Daghriry
Rawan K. Alharbi

Frontiers in Genetics

doi 10.3389/fgene.2025.1679594

921 views

Original Research

Published on 15 Oct 2025

Clinical and genetic analysis of MOCOS gene-related hypouricemia

in Genetics of Common and Rare Diseases

Huifang Peng
Ping Tu
Qiaobo Ma
Jinpeng Tang
Wannv Xiao
Xinyu Hu
Yingyu Zhang
Hongwei Jiang

Frontiers in Genetics

doi 10.3389/fgene.2025.1636032

596 views

Original Research

Accepted on 14 Oct 2025

Downregulation of aquaporin 3 promotes hyperosmolarity-induced apoptosis of nucleus pulposus cells through PI3K/Akt/mTOR pathway suppression

in Genetics of Common and Rare Diseases

Gang Hou
Yuan Sang
Qing Hui Zhao
Jun Jia Wu
Ting Zhang
Bin Wen Xu
Hua Kai Liu
Chang Liu
Ping Li
Chun Yi Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1665899

102 views

Case Report

Published on 13 Oct 2025

Thoracic aortic aneurysm combined with intracranial vascular abnormalities caused by dual mutations in MYLK and FBN2: a case report

in Genetics of Common and Rare Diseases

Maorong Cai
Yang Liu
Zhaodi Liao
Yiping Wu
Jiantong Jiao

Frontiers in Genetics

doi 10.3389/fgene.2025.1672342

422 views

Original Research

Accepted on 10 Oct 2025

Application of Trio-based Whole-Exome Sequencing in Fetal Ultrasound Anomalies: A Single-Center Retrospective Study of 454 Cases

in Genetics of Common and Rare Diseases

Dongyi Yu
Dairong Feng
Jiangbo Qu
Lei Nie
Qian Liu
Lu Gao
Wenzhen An
Na Liu
Yuying Fang

Frontiers in Genetics

doi 10.3389/fgene.2025.1662801

277 views

Case Report

Accepted on 10 Oct 2025

Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in SPTB gene 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
Prof. (Dr.) Santasree Banerjee

Frontiers in Genetics

doi 10.3389/fgene.2025.1626155

170 views

Case Report

Published on 10 Oct 2025

Case Report: Practical approach to differentiating juvenile parkinsonism of genetic cause and drug-induced parkinsonism in adolescents: a case series and literature review

in Genetics of Common and Rare Diseases

Ioana Grigore
Lăcrămioara Ionela Butnariu
Thomas Gabriel Schreiner
Vasile Valeriu Lupu
Ancuta Lupu
Ludmila Darie
Cătălin Prăzaru
Elena Țarcă
Setalia Popa
Ecaterina Grigore

Frontiers in Genetics

doi 10.3389/fgene.2025.1672445

566 views

Case Report

Accepted on 09 Oct 2025

Case report: Identification of a Novel 9.159-kb Deletion in a Chinese α-Thalassemia Family Using Single Molecule Real-Time Technology Sequencing

in Genetics of Common and Rare Diseases

Wu Shulin
Feng Zonghui
Jiang Fuxiang
Zhao Min
Jiang Peng
Xiao Gang
Zhang Xian

Frontiers in Genetics

doi 10.3389/fgene.2025.1669814

102 views

Original Research

Published on 09 Oct 2025

The molecular characterization of seven novel GLI family zinc finger 3 (GLI3) variants in Chinese families with limb malformations

in Genetics of Common and Rare Diseases

Siyuan Tao
Xuyu Gu
Xiaodong Wang
Xiaofang Shen
Xiuli Zhao

Frontiers in Genetics

doi 10.3389/fgene.2025.1650790

659 views

Brief Research Report

Published on 08 Oct 2025

A novel splicing variant in NBAS identified by minigene assay causes infantile liver failure syndrome type 2

in Genetics of Common and Rare Diseases

Anna Hu
Jun Liang
Hongbo Liu
Jinghui Jiang
Fujing Xie
Xiaojia Zhang
Xin Zhou

Frontiers in Genetics

doi 10.3389/fgene.2025.1687266

854 views