Heterozygous Missense Mutation | List of Frontiers open access articles

Original Research

Published on 04 Jul 2022

Identification of a Novel Heterozygous Mutation in the EIF2B4 Gene Associated With Vanishing White Matter Disease

in Nanobiotechnology

Yun Tian
Qiong Liu
Yafang Zhou
Xiao-Yu Chen
Yongcheng Pan
Hongwei Xu
Zhuanyi Yang

Frontiers in Bioengineering and Biotechnology

doi 10.3389/fbioe.2022.901452

3,441 views
5 citations

Original Research

Published on 17 Jun 2024

Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH

in Genetics of Common and Rare Diseases

Yuzhao Liu
Xuesong Fan
Kun Qian
Changshun Wu
Laibo Zhang
Lin Yuan
Zhentao Man
Shuai Wu
Ping Li
Xianquan Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1375736

2,991 views

Case Report

Published on 29 Mar 2022

Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family

in Genetics of Common and Rare Diseases

Yanglin Hu
Wei Li
Lulu Tian
Shuai Fu
Yonglong Min
Jia Liu
Fei Xiong

Frontiers in Genetics

doi 10.3389/fgene.2022.839212

3,320 views

Case Report

Published on 04 Jan 2023

The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations

in Genetics of Common and Rare Diseases

Yi Tang
Yu-Xing Liu
Yue Sheng
Liang-Liang Fan
Ai-Qian Zhang
Zhao-Fen Zheng

Frontiers in Genetics

doi 10.3389/fgene.2022.1031856

3,860 views
5 citations

Case Report

Published on 04 Aug 2020

Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis

in Genetics of Common and Rare Diseases

Nan Wu
Lili Tang
Xiuxiu Li
Yuwei Dai
Xiaodong Zheng
Min Gao
Peiguang Wang

Frontiers in Genetics

doi 10.3389/fgene.2020.00841

4,779 views
17 citations

Original Research

Published on 21 Apr 2022

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract

in Molecular and Cellular Pathology

Aixia Jin
Qingqing Zhao
Shuting Liu
Zi-bing Jin
Shuyan Li
Mengqing Xiang
Mingbing Zeng
Kangxin Jin

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2022.794837

3,988 views
9 citations

Brief Research Report

Published on 17 Nov 2021

Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype

in Genetics of Common and Rare Diseases

Xinmei Wen
Wenjia Zhu
Nan L. Xia
Qianwen Li
Li Di
Shu Zhang
Hai Chen
Yan Lu
Min Wang
Min Xu

Frontiers in Genetics

doi 10.3389/fgene.2021.776831

4,452 views
5 citations

Case Report

Published on 16 Jun 2020

Left Bundle Pacing for Left Bundle Branch Block and Intermittent Third-Degree Atrioventricular Block in a MYH7 Mutation-Related Hypertrophic Cardiomyopathy With Restrictive Phenotype in a Child

in Pediatric Cardiology

Luyan Zhang
Xueying Cheng
Jinlong Chen
Ming Zhou
Tianwei Qian
Zhongman Zhang
Jie Yin
Han Zhang
Genyin Dai
Yuming Qin

Frontiers in Pediatrics

doi 10.3389/fped.2020.00312

5,474 views
18 citations

Original Research

Published on 20 Oct 2016

A Foxp2 Mutation Implicated in Human Speech Deficits Alters Sequencing of Ultrasonic Vocalizations in Adult Male Mice

in Individual and Social Behaviors

Jonathan Chabout
Abhra Sarkar
Sheel R. Patel
Taylor Radden
David B. Dunson
Simon E. Fisher
Erich D. Jarvis

Frontiers in Behavioral Neuroscience

doi 10.3389/fnbeh.2016.00197

29,084 views
107 citations

Case Report

Published on 18 Dec 2025

Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease

in Genetics of Common and Rare Diseases

Jingying Xu
Enhui Chen
Wen Shi
Wenhui He
Dongrong Yu
Xianfa Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1661377

1,450 views

Case Report

Published on 27 Sep 2023

Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1

in Neurogenetics

Hui Zhang
Kai-Li Fan
Yue-Qi Zhang
Xiao-Yan Hao
Xiang-Zhen Yuan
Shu-Yun Zhang

Frontiers in Neurology

doi 10.3389/fneur.2023.1237847

3,779 views
1 citation

Case Report

Published on 29 Aug 2024

Multimodal optical imaging of iris flocculi in three consecutive generations: a case report

in Ophthalmology

Anna Jiang
Licong Liang
Kaiqin She
Fang Lu

Frontiers in Medicine

doi 10.3389/fmed.2024.1369884

2,422 views
1 citation

Case Report

Published on 04 Oct 2019

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

in Neuromuscular Disorders and Peripheral Neuropathies

Ariadna González-del Angel
Michela Bisciglia
Steven Vargas-Cañas
Francisca Fernandez-Valverde
Ekaterina Kazakova
Rosa Elena Escobar
Norma B. Romero
Claude Jardel
Benoit Rucheton
Tanya Stojkovic

Frontiers in Neurology

doi 10.3389/fneur.2019.01049

4,797 views
12 citations

Case Report

Published on 21 Jan 2026

CSF1R-related leukoencephalopathy presenting with early apathy, hypoactivity, and cognitive flattening: a case report of a diagnostic challenge

in Brain Health and Clinical Neuroscience

Wen Yang
Chunli Li
Hongjiang Zhang
Yangjia Zhang

Frontiers in Human Neuroscience

doi 10.3389/fnhum.2026.1702515

604 views

Case Report

Published on 21 Nov 2023

Case Report: Identification of novel CDH2 mutation (p. P183A het)-induced arrhythmogenic cardiomyopathy in China

in Pediatric Cardiology

Kun Li
Yifei Wang
Jing Yang
Fang Liu
Fulan Liu
Ping Zhang

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2023.1258807

2,267 views
2 citations

Case Report

Published on 11 Dec 2023

Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation

in Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders

Lin-Yan Hu
Lin Wan
Qiu-Hong Wang
Xiu-Yu Shi
Yan Meng
Xiao-Fan Yang
Guang Yang
Li-Ping Zou

Frontiers in Immunology

doi 10.3389/fimmu.2023.1306338

3,209 views
4 citations

Articles

Identification of a Novel Heterozygous Mutation in the EIF2B4 Gene Associated With Vanishing White Matter Disease

Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH

Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family

The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations

Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract

Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype

Left Bundle Pacing for Left Bundle Branch Block and Intermittent Third-Degree Atrioventricular Block in a MYH7 Mutation-Related Hypertrophic Cardiomyopathy With Restrictive Phenotype in a Child

A Foxp2 Mutation Implicated in Human Speech Deficits Alters Sequencing of Ultrasonic Vocalizations in Adult Male Mice

Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease

Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1

Multimodal optical imaging of iris flocculi in three consecutive generations: a case report

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

CSF1R-related leukoencephalopathy presenting with early apathy, hypoactivity, and cognitive flattening: a case report of a diagnostic challenge

Case Report: Identification of novel CDH2 mutation (p. P183A het)-induced arrhythmogenic cardiomyopathy in China

Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation