Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 07 Nov 2025

Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency

in Genetics of Common and Rare Diseases

Yan Zhou
Linbing Zou
Yaoyao Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1648420

189 views

Case Report

Published on 07 Nov 2025

Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay

in Genetics of Common and Rare Diseases

Junlin Pan
Yan Zhang
Jinwei Hou
Na Shi
Huiling Qu
Longhuan Jiang
Haiping Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1637931

362 views

Original Research

Published on 07 Nov 2025

Precision genomic profiling in Gaucher disease: insights from atypical presentations

in Genetics of Common and Rare Diseases

Armaan Saith
Noor Ul Ain
Jiapeng Ruan
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

334 views

Correction

Published on 07 Nov 2025

Correction: 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
Xin Zhou
Xiaojia Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1722189

323 views

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

301 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

270 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

479 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

386 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

398 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

325 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

380 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

683 views