Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 06 Nov 2025

Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders

in Genetics of Common and Rare Diseases

Dmitrii Subbotin
Eugene Tatarskiy
Anna Kuchina
Tatiana Cherevatova
Tatiana Krylova
Oksana Ryzhkova
Mikhail Skoblov
Aysylu Murtazina

Frontiers in Genetics

doi 10.3389/fgene.2025.1699834

156 views

Case Report

Published on 06 Nov 2025

Case Report: 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

164 views

Case Report

Published on 06 Nov 2025

Case Report: Novel compound heterozygous mutations in PNPLA6 gene associated with Oliver-McFarlane syndrome

in Genetics of Common and Rare Diseases

Jia Zheng
Zhe Wang
Keqing Li
Lixia Chen
Yayin Luo
Fei Yu
Dan Wang
Guangxiang Yu

Frontiers in Genetics

doi 10.3389/fgene.2025.1660243

375 views

Case Report

Published on 06 Nov 2025

A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review

in Genetics of Common and Rare Diseases

Hanan Aljedani
Yousef Faden
Manar Alghamdi
Alshaimaa Alzahrani
Aiman Shawli
Reem Albakistani

Frontiers in Genetics

doi 10.3389/fgene.2025.1669947

258 views

Original Research

Published on 06 Nov 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 M. 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

254 views

Case Report

Published on 05 Nov 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

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1669814

292 views

Original Research

Published on 05 Nov 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

Yuan Sang
Huiqing Zhao
Jiajun Wu
Ting Zhang
Wenbin Xu
Kaihua Liu
Chang Liu
Ping Li
Yichun Xu
Jianying Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1665899

343 views

Original Research

Accepted on 03 Nov 2025

BAG3-related myofibrillar myopathy: focus on its cardiac involvement

in Genetics of Common and Rare Diseases

Elise Daire
Elena Panaioli
Cyril Gitiaux
Catherine Gardin
Victor Waldmann
Damien Bonnet
Karim Wahbi
Diala Khraiche

Frontiers in Genetics

Original Research

Accepted on 03 Nov 2025

Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutation in 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

Case Report

Accepted on 03 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
Zhanna Markova
Ekaterina Lotnik
Aleksandra Shagiazdanova
Ekaterina Filimonova
Olga Parshina
Anastasiia A. Buianova
Anastasia Bobreshova
Andrey Marakhonov

Frontiers in Genetics

Original Research

Accepted on 03 Nov 2025

LRRC56 Deficiency Cause Motile Ciliopathies in Humans and Mice

in Genetics of Common and Rare Diseases

Xiao-Hui Xie
Heng Gu
Junlin Yang
Zhuang-zhuang Yuan
Kele Qin
Zhi-Ping Tan

Frontiers in Genetics

Original Research

Published on 03 Nov 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
Kvetoslava Mahutova
Julie Nejezchlebova
Lenka Petrkova
Lubos Boucek
Arpad Boday
Spiros Tavandzis

Frontiers in Genetics

doi 10.3389/fgene.2025.1677311

616 views

Case Report

Accepted on 31 Oct 2025

Case Report: developmental Delay and Intellectual Disability Linked to a Maternally Inherited Derivative Chromosome 3 from a t(3;8) Translocation

in Genetics of Common and Rare Diseases

Andrés León
Alex S. Aguirre
Anna Lindstrand
Marlene Ek
Vanessa Romero

Frontiers in Genetics

115 views

Case Report

Published on 31 Oct 2025

“Case report”: 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

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1688885

757 views

Original Research

Accepted on 30 Oct 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

Original Research

Published on 30 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

584 views