Frontiers in Genetics | Genetics of Common and Rare Diseases

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

188 views

Original Research

Published on 30 Oct 2025

Prenatal diagnosis of Prader–Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status

in Genetics of Common and Rare Diseases

Yanchou Ye
Yiman Fu
Zhechao Zhang
Haofeng Ning
Fangchao Tao
Xiaonan Wang
Qun Fang
Zheng Chen
Xiulan Hao

Frontiers in Genetics

doi 10.3389/fgene.2025.1675663

738 views

Original Research

Accepted on 29 Oct 2025

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up

in Genetics of Common and Rare Diseases

Shuang Zhang
Panpan Xiao
Yonghua Gu
Xiaolong Qi
Ting Li
Tingting Zuo
Yule Xie
Xunlun Sheng

Frontiers in Genetics

Original Research

Accepted on 28 Oct 2025

Mechanistic Insights into NFIX Frameshift Mutations in Malan Syndrome: Proteasomal Degradation-Mediated Haploinsufficiency

in Genetics of Common and Rare Diseases

Yan Zhou
Linbin Zou
Yaoyao Li

Frontiers in Genetics

101 views

Review

Published on 28 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

709 views

Case Report

Accepted on 27 Oct 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
Oxana Ryzhkova
Mikhail Skoblov
Aysylu Murtazina

Frontiers in Genetics

118 views

Case Report

Accepted on 27 Oct 2025

Compound heterozygous CEP152 c.3346-5T>C and chr15 deletion caused recurrent MCPH-SCKS in a Chinese pregnant woman during two consecutive pregnancies

in Genetics of Common and Rare Diseases

Tao Zhang
Hua Yuan
Xiaoliang Shi
Yao He
Hai-Tao Pan
Yongxing Zhong
Jintang Zhang
Zhen Yang
Yunyan Ke
Yan Chen

Frontiers in Genetics

154 views

Case Report

Accepted on 27 Oct 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

182 views

Case Report

Accepted on 24 Oct 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

348 views

Case Report

Published on 23 Oct 2025

Case Report: a novel missense variant of FGD5 in a family with tetralogy of Fallot

in Genetics of Common and Rare Diseases

Meng-Wei Liu
Yi Dong
Rong Xiang
Liping Wu

Frontiers in Genetics

doi 10.3389/fgene.2025.1663959

1,144 views

Case Report

Accepted on 22 Oct 2025

Familial Xq27.1q28 Duplication Arising from a Maternal Interarm Forward Insertion of the X Chromosome: A Case Report

in Genetics of Common and Rare Diseases

Xiang Li
Yuan-Mei Peng
Bo-Wen Luo
Yu-Di Luo
Keng Feng
De-Rong Li
Zeng-Yu Yang
Lingling Zhu
Jin-Jie Pan
Ju-Jie Song

Frontiers in Genetics

358 views

Original Research

Published on 22 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
Baicheng Xu
Dujuan Lin
Ya Wang
Panpan Bian

Frontiers in Genetics

doi 10.3389/fgene.2025.1679351

725 views

Correction

Accepted on 21 Oct 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

319 views

Case Report

Published on 21 Oct 2025

Case Report: Clinical and molecular features of 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

899 views

Original Research

Published on 21 Oct 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 Asteggiano

Frontiers in Genetics

doi 10.3389/fgene.2025.1678103

900 views

Opinion

Accepted on 20 Oct 2025

Why all MODY variants in transcription factor genes are dominantly inherited

in Genetics of Common and Rare Diseases

Roman Zug

Frontiers in Genetics

388 views