Frontiers in Genetics | Genetics of Common and Rare Diseases

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

301 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

215 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

145 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

444 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

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

560 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

760 views

Original Research

Accepted on 07 Oct 2025

Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis

in Genetics of Common and Rare Diseases

Evgeniya Melnik
Daria Akimova
Tatiana Markova
Eugene Tatarskiy
Anna Tvorogova
Viktoria Zabnenkova
Vladimir Kenis
Olga Agranovich
Mikhail Skoblov
Elena Dadali

Frontiers in Genetics

doi 10.3389/fgene.2025.1664424

130 views

Original Research

Accepted on 06 Oct 2025

Family-Based NGS Panel Testing of Cardiopathies and Arrhythmic Syndromes

in Genetics of Common and Rare Diseases

Hana Hrazderova
Jana Petrkova
Anna Crhova
Klara Herkommerova
Květa Mahutova
Julie Nejezchlebova
Lenka Petrkova
Lubos Boucek
Arpad Boday
Spiros Tavandzis

Frontiers in Genetics

doi 10.3389/fgene.2025.1677311

166 views

Case Report

Accepted on 06 Oct 2025

D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China

in Genetics of Common and Rare Diseases

Hui Liu
Gaojie Liu
Lianjun Gao
Hui Wang
Yizhong Wang
Hongfang Ding

Frontiers in Genetics

doi 10.3389/fgene.2025.1631767

107 views

Case Report

Accepted on 06 Oct 2025

von Hippel-Lindau (VHL) Disease: A young female presenting with multiple organ tumors

in Genetics of Common and Rare Diseases

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1676039

137 views

Original Research

Accepted on 06 Oct 2025

A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1

in Genetics of Common and Rare Diseases

LuPeng Zhan
Bai-cheng Xu
Dujuan Lin
Ya Wang
Panpan Bian

Frontiers in Genetics

doi 10.3389/fgene.2025.1679351

147 views

Original Research

Accepted on 01 Oct 2025

Precision Genomic Profiling in Gaucher Disease: Insights from Atypical Presentations

in Genetics of Common and Rare Diseases

Armaan Saith
Jiapeng Ruan
Noor Ul Ain
Maniya Kasaiyan
Dhanpat Jain
Gary Israel
Sameet Mehta
Nigel S Bamford
Shiny Nair
Pramod K Mistry

Frontiers in Genetics

doi 10.3389/fgene.2025.1553036

219 views

Case Report

Accepted on 30 Sep 2025

Case report: Clinical and Molecular Particularities in a Radiosensitive Autoimmune Polyendocrine Syndrome Type 1 Patient With Oral Carcinoma

in Genetics of Common and Rare Diseases

Asma Chikhaoui
Houda Hammami-Ghorbel
Dorra Najjar
Semia Zarraa
Safia Yahiaoui
Davor Lessel
Houda Yacoub-Youssef

Frontiers in Genetics

doi 10.3389/fgene.2025.1588108

208 views

Original Research

Published on 30 Sep 2025

Prenatal diagnosis and molecular characterization of PKHD1 variants in two Chinese fetuses with Caroli disease/syndrome

in Genetics of Common and Rare Diseases

Hui Huang
Sheng Zhao
Dan Wang
Shengbao Pan
Fang Liu
Peiwen Chen
Xinlin Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1651306

2,119 views

Original Research

Accepted on 29 Sep 2025

IN VITRO CELL MODEL TO DILUCIDATE THE UNDERLYING MOLECULAR MECHANISM ASSOCIATED WITH OPHTHALMIC MANIFESTATION OF CONGENITAL DISORDERS OF GLYCOSYLATION: STUDYING AN ALG2-CDG PATIENT

in Genetics of Common and Rare Diseases

Marisa Angelica Cubilla
Ana Clara Sclausero
Mariano Bisbal
Carla Gabriela Gabriela Asteggiano

Frontiers in Genetics

doi 10.3389/fgene.2025.1678103

253 views