Frameshift Deletion | List of Frontiers open access articles

Case Report

Published on 21 Aug 2024

Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome

in Neurogenomics

Christine Anna Dambietz
Andrea Doescher
Michael Heming
Anja Schirmacher
Bernhard Schlüter
Andrea Schulte-Mecklenbeck
Christian Thomas
Heinz Wiendl
Gerd Meyer zu Hörste
Sarah Wiethoff

Frontiers in Genetics

doi 10.3389/fgene.2024.1421952

2,844 views
2 citations

Original Research

Published on 26 Nov 2019

Detection of a Frameshift Deletion in the SPTBN4 Gene Leads to Prevention of Severe Myopathy and Postnatal Mortality in Pigs

in Livestock Genomics

Martijn F. L. Derks
Barbara Harlizius
Marcos S. Lopes
Sylvia W. M. Greijdanus-van der Putten
Bert Dibbits
Kimberley Laport
Hendrik-Jan Megens
Martien A. M. Groenen

Frontiers in Genetics

doi 10.3389/fgene.2019.01226

5,351 views
10 citations

Original Research

Published on 26 May 2023

Interplays of mutations in waaA, cmk, and ail contribute to phage resistance in Yersinia pestis

in Bacteria and Host

Lisheng Xiao
Zhizhen Qi
Kai Song
Ruichen Lv
Rong Chen
Haihong Zhao
Hailian Wu
Cunxiang Li
Youquan Xin
Yong Jin

Frontiers in Cellular and Infection Microbiology

doi 10.3389/fcimb.2023.1174510

6,693 views
6 citations

Case Report

Published on 24 Nov 2017

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles

in Pediatric Nephrology

Korbinian Maria Riedhammer
Corinna Siegel
Bader Alhaddad
Carmen Montoya
Reka Kovacs-Nagy
Matias Wagner
Thomas Meitinger
Julia Hoefele

Frontiers in Pediatrics

doi 10.3389/fped.2017.00251

5,136 views
19 citations

Correction

Published on 13 Feb 2026

Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G

in Dermatology

Mónica Mora-Gómez
Marta Feito
Natalia Gallego-Zazo
Rocío Maseda-Pedrero
Tristán G. Sobral-Costas
Lucía Miranda-Alcaraz
Valeria Vásquez-Amell
Manuel Rodríguez-Canó
Alejandro Parra
Mario Cazalla

Frontiers in Medicine

doi 10.3389/fmed.2026.1779531

270 views

Case Report

Published on 26 Nov 2025

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G

in Dermatology

Mónica Mora-Gómez
Marta Feito
Natalia Gallego-Zazo
Rocío Maseda-Pedrero
Tristán G. Sobral-Costas
Lucía Miranda-Alcaraz
Valeria Vásquez-Amell
Manuel Rodríguez-Canó
Alejandro Parra
Mario Cazalla

Frontiers in Medicine

doi 10.3389/fmed.2025.1687811

1,354 views

Original Research

Published on 27 Apr 2023

Identification of VIPR2 rare and common variants in the Chinese Han population with schizophrenia

in Neuroplasticity and Development

Jiajun Yin
Juan Zhou
Fang Fang
Shui Yu
Jun Wang
Jianmin Yuan
Zhenhe Zhou

Frontiers in Molecular Neuroscience

doi 10.3389/fnmol.2023.1170708

4,237 views

Case Report

Published on 25 Jun 2019

A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family

in Genetics of Common and Rare Diseases

Nagwa E. A. Gaboon
Asia Parveen
Ahmed El Beheiry
Jumana Y. Al-Aama
Mosab S. Alsaedi
Naveed Wasif

Frontiers in Pediatrics

doi 10.3389/fped.2019.00245

3,723 views
3 citations

Original Research

Published on 31 May 2017

Next-Generation Sequencing from Bulked-Segregant Analysis Accelerates the Simultaneous Identification of Two Qualitative Genes in Soybean

in Plant Breeding

Jian Song
Zhen Li
Zhangxiong Liu
Yong Guo
Li-Juan Qiu

Frontiers in Plant Science

doi 10.3389/fpls.2017.00919

26,583 views
107 citations

Case Report

Published on 01 Dec 2021

Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree

in Dermatology

Hui Wang
Zhenyu Zhong
Xiuli Wang
Liyun Zheng
Yifan Wang
Shan Wang
Siqi Liu
Hui Li
Ze Guo
Min Gao

Frontiers in Medicine

doi 10.3389/fmed.2021.774266

4,742 views
7 citations

Original Research

Published on 02 Jul 2021

Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family

in Neurogenomics

Feng Zhu
Fengxiao Zhang
Lizhi Hu
Haowen Liu
Yahua Li

Frontiers in Genetics

doi 10.3389/fgene.2021.672906

4,013 views
5 citations

Original Research

Published on 03 Jul 2023

Novel pathogenic variant in LMNA gene identified in a six-generation family causing atrial cardiomyopathy and associated right atrial conduction arrhythmias

in Cardiovascular Genetics and Systems Medicine

Shifeng Ning
Min Han
Rujie Qiu
Xiaoming Hong
Zhao Xia
Li Liu
Chengwei Liu

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2023.1109008

4,087 views

Original Research

Published on 24 Nov 2022

Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene

in Genetics of Common and Rare Diseases

Imad Dweikat
Reham Khalaf-Nazzal

Frontiers in Genetics

doi 10.3389/fgene.2022.1004598

4,397 views
5 citations

Original Research

Published on 21 Feb 2020

Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity

in Obesity

Petra Loid
Taina Mustila
Riikka E. Mäkitie
Heli Viljakainen
Anders Kämpe
Päivi Tossavainen
Marita Lipsanen-Nyman
Minna Pekkinen
Outi Mäkitie

Frontiers in Endocrinology

doi 10.3389/fendo.2020.00081

10,632 views
42 citations

Original Research

Published on 12 Aug 2021

Diaphyseal and Metaphyseal Modeling Defects—Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia

in Genetics of Common and Rare Diseases

Yun Hao
Xiao-Lin Wang
Jun Xiao
Chun-Lei Jiao
Xin-Yao Meng
Jia-Chao Guo
Jing-Fan Shao
Jie-Xiong Feng
Jin-Peng He

Frontiers in Genetics

doi 10.3389/fgene.2021.684905

5,866 views

Original Research

Published on 16 Oct 2025

Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia

in Genetics of Common and Rare Diseases

Abdulrahman Hummadi
Dhayf Alrahman Mutawwam
Babajan Banaganapalli
Fai Alsubhi
Naji J. Aljohani
Ali J. Alhagawy
Turki Algohani
Ibrahim Fallatah
Mohammed Y. Daghriry
Rawan K. Alharbi

Frontiers in Genetics

doi 10.3389/fgene.2025.1679594

2,942 views

Articles

Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome

Detection of a Frameshift Deletion in the SPTBN4 Gene Leads to Prevention of Severe Myopathy and Postnatal Mortality in Pigs

Interplays of mutations in waaA, cmk, and ail contribute to phage resistance in Yersinia pestis

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles

Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G

Identification of VIPR2 rare and common variants in the Chinese Han population with schizophrenia

A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family

Next-Generation Sequencing from Bulked-Segregant Analysis Accelerates the Simultaneous Identification of Two Qualitative Genes in Soybean

Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree

Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family

Novel pathogenic variant in LMNA gene identified in a six-generation family causing atrial cardiomyopathy and associated right atrial conduction arrhythmias

Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene

Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity

Diaphyseal and Metaphyseal Modeling Defects—Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia

Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia