Frameshift Mutation | List of Frontiers open access articles

Case Report

Published on 07 Aug 2025

Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report

in Pediatric Pulmonology

Wanting Xu
Yan Yang
Lan Kang
Ling Guo
Jing Liu
Yan Zeng
Lei Li
Ai Chen
Rong Zhang
Wenbin Dong

Frontiers in Pediatrics

doi 10.3389/fped.2025.1630730

2,210 views

Case Report

Published on 03 Apr 2024

Case report: Highly response to low-dose brachytherapy in recurrent retroperitoneal leiomyosarcoma with FANCD2 frameshift mutation: a unique case study

in Cancer Genetics

Xiao li Liu
Jinxin Zhao
Xue min Di
Guohui Cao
Hongtao Zhang
Juan Wang

Frontiers in Oncology

doi 10.3389/fonc.2024.1339955

1,424 views

Case Report

Published on 15 Nov 2018

A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American

in Pediatric Neurology

Sean C. Dougherty
Amy Harper
Hind Al Saif
Gregory Vorona
Scott R. Haines

Frontiers in Neurology

doi 10.3389/fneur.2018.00956

4,266 views
12 citations

Case Report

Published on 08 May 2023

Case Report: Lung adenocarcinoma associated with germline ERCC2 frameshift mutation

in Molecular and Cellular Oncology

Lili Liu
Jia Cui
Siye Liu
Evenki Pan
Limin Sun

Frontiers in Oncology

doi 10.3389/fonc.2023.1177942

3,002 views
2 citations

Original Research

Published on 12 Feb 2018

Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1

in Pituitary Endocrinology

Lian Duan
Qian Li
An-Li Tong
Jiang-Feng Mao
Miao Yu
Tao Yuan
Xiao-Feng Chai
Feng Gu

Frontiers in Endocrinology

doi 10.3389/fendo.2018.00018

5,985 views
12 citations

Original Research

Published on 22 Jun 2023

A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia

in Reproduction

Fei Huang
Jun Zeng
Dan Liu
Jing Zhang
Boluo Liang
Jingping Gao
Rong Yan
Xiaobo Shi
Jianlin Chen
Wanjuan Song

Frontiers in Endocrinology

doi 10.3389/fendo.2023.1122004

5,081 views
17 citations

Case Report

Published on 24 Mar 2023

Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum

Ji-Qing Duan
Hui Liu
Jia-Qiao Wu

Frontiers in Integrative Neuroscience

doi 10.3389/fnint.2023.1117617

7,918 views
3 citations

Original Research

Published on 04 Jun 2020

Functional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family

in Genetics of Common and Rare Diseases

Mengqi Zhang
Jieni Zhang
Huaxiang Zhao
Vitaly Ievlev
Wenjie Zhong
Wenbin Huang
Robert A. Cornell
Jiuxiang Lin
Feng Chen

Frontiers in Genetics

doi 10.3389/fgene.2020.00562

6,970 views
8 citations

Case Report

Published on 06 Jun 2019

Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype

in Genetics of Common and Rare Diseases

Emanuele Micaglio
Michelle M. Monasky
Giuseppe Ciconte
Gabriele Vicedomini
Manuel Conti
Valerio Mecarocci
Luigi Giannelli
Federica Giordano
Alberto Pollina
Massimo Saviano

Frontiers in Genetics

doi 10.3389/fgene.2019.00547

4,990 views
13 citations

Case Report

Published on 15 Feb 2019

SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis

in Genetics of Common and Rare Diseases

Emanuele Micaglio
Michelle M. Monasky
Giuseppe Ciconte
Gabriele Vicedomini
Manuel Conti
Valerio Mecarocci
Luigi Giannelli
Federica Giordano
Alberto Pollina
Massimo Saviano

Frontiers in Genetics

doi 10.3389/fgene.2019.00050

4,428 views
13 citations

Case Report

Published on 14 Nov 2022

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report

in Pediatric Nephrology

Jiajia Ni
Yaju Zhu
Fujun Lin
Wenbin Guan
Jing Jin
Yufeng Li
Guimei Guo

Frontiers in Pediatrics

doi 10.3389/fped.2022.1043502

2,494 views
1 citation

Original Research

Published on 09 Jan 2023

A novel frameshift mutation in TRPV6 is associated with hereditary pancreatitis

in Genetics of Common and Rare Diseases

Idrees A. Shah
Hari Prasad
Sanghita Banerjee
Reuben Thomas Kurien
Sudipta Dhar Chowdhury
Sandhya S. Visweswariah

Frontiers in Genetics

doi 10.3389/fgene.2022.1058057

4,155 views
9 citations

Case Report

Published on 29 Jul 2022

Cutaneous dirt-adherent disease complicated with Darier’s disease, schizophrenia, and cutis verticis gyrata: A case report

in Dermatology

Qing Zhu
Shu-Jing Guo
Bin Wang
Lu-Lu Xu
Guo-Qiang Zhang

Frontiers in Medicine

doi 10.3389/fmed.2022.939107

6,437 views
1 citation

Case Report

Published on 21 Mar 2023

Case report: Gene mutation analysis and skin imaging of isolated café-au-lait macules

in Genetics of Common and Rare Diseases

Zhenyu Zhong
Tianhui Yang
Siqi Liu
Shan Wang
Shan Zhou
Shuli Du
Liyun Zheng
Xiuli Wang
Hui Wang
Yifan Wang

Frontiers in Genetics

doi 10.3389/fgene.2023.1126555

6,555 views
2 citations

Original Research

Published on 07 Jul 2022

A Rare Heterozygous TINF2 Deletional Frameshift Mutation in a Chinese Pedigree With a Spectrum of TBDs Phenotypes

in Genetics of Common and Rare Diseases

Hai-Long Ren
Ying-Chun Zheng
Guo-Qian He
Ju Gao
Xia Guo

Frontiers in Genetics

doi 10.3389/fgene.2022.913133

3,571 views

Original Research

Published on 26 Oct 2022

Heterozygous frameshift mutation in FaMYB10 is responsible for the natural formation of red and white-fleshed strawberry (Fragaria x ananassa Duch)

in Plant Breeding

Huazhao Yuan
Weijian Cai
Xiaodong Chen
Fuhua Pang
Jing Wang
Mizhen Zhao

Frontiers in Plant Science

doi 10.3389/fpls.2022.1027567

5,676 views
14 citations

Articles

Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report

Case report: Highly response to low-dose brachytherapy in recurrent retroperitoneal leiomyosarcoma with FANCD2 frameshift mutation: a unique case study

A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American

Case Report: Lung adenocarcinoma associated with germline ERCC2 frameshift mutation

Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1

A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia

Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum

Functional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family

Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype

SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report

A novel frameshift mutation in TRPV6 is associated with hereditary pancreatitis

Cutaneous dirt-adherent disease complicated with Darier’s disease, schizophrenia, and cutis verticis gyrata: A case report

Case report: Gene mutation analysis and skin imaging of isolated café-au-lait macules

A Rare Heterozygous TINF2 Deletional Frameshift Mutation in a Chinese Pedigree With a Spectrum of TBDs Phenotypes

Heterozygous frameshift mutation in FaMYB10 is responsible for the natural formation of red and white-fleshed strawberry (Fragaria x ananassa Duch)