Frontiers in Genetics | Genetics of Common and Rare Diseases

Brief Research Report

Published on 17 Jan 2025

Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever

in Genetics of Common and Rare Diseases

Rudy Feghali
José-Noel Ibrahim
Nabiha Salem
Romy Moussallem
Ghina Hijazi
Charbel Attieh
Tony Yammine
Alain Chebly

Frontiers in Genetics

doi 10.3389/fgene.2024.1506656

312 views

Case Report

Published on 15 Jan 2025

Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency

in Genetics of Common and Rare Diseases

Haishao Yu
Shuangzhu Lin
Lin Li
Jiayi Li
Qiandui Chen
Yuheng Wu
Yangfan Qi
Wanqi Wang
Xingzhi Chang
Jie Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1478581

165 views

Original Research

Published on 15 Jan 2025

Increased cardiac macrophages in Sorbs2-deficient hearts: revealing a potential role for macrophage in responding to embryonic myocardial abnormalities

in Genetics of Common and Rare Diseases

Beibei Hu
Xiangyang Liu
Shanshan Xiong
Qin Gong
Junjie Yang
Hongjun Shi
Min Zhang
Fei Liang
Zhen Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1525931

243 views

Original Research

Accepted on 13 Jan 2025

Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation

in Genetics of Common and Rare Diseases

Xiaojun Wen
Zhiming Li
Lizi Cheng
Jianhong Wei
Wenjuan Yu
Xiufeng Lin
Xiaowu Fang

Frontiers in Genetics

doi 10.3389/fgene.2025.1531697

Clinical Trial

Published on 13 Jan 2025

Genetic variation in patent foramen ovale: a case-control genome-wide association study

in Genetics of Common and Rare Diseases

Bosi Dong
Yajiao Li
Fandi Ai
Jia Geng
Ting Tang
Wan Peng
Yusha Tang
Hui Wang
Zixuan Tian
Fengxiao Bu

Frontiers in Genetics

doi 10.3389/fgene.2024.1523304

207 views

Case Report

Accepted on 09 Jan 2025

Case Report: Discovery of Novel CTNNB1 Mutations and Comparison of Clinical Characteristics in Two Patients with NEDSDV

in Genetics of Common and Rare Diseases

Eojin LEE
Ja Young Choi
Shin-seung Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1502756

Original Research

Published on 08 Jan 2025

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

in Genetics of Common and Rare Diseases

Yufeng Huang
Wenyue Deng
Hui Huang
Xiankai Zhang
Xiaohong Chen
Jian Ye
Sukun Luo
Ting Yu
Hui Yao
Hao Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1452498

250 views

Systematic Review

Accepted on 07 Jan 2025

Comprehensive systematic review and meta-analysis of the TGF-β1 T869C gene polymorphism and autoimmune disease susceptibility

in Genetics of Common and Rare Diseases

Yawen Zhu
AI QIAN
Yuan-Yuan Cheng
Ming Li
Chuanbing Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1502921

Case Report

Published on 07 Jan 2025

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care

in Genetics of Common and Rare Diseases

Samantha Saenz Hinojosa
Carlos Reyes-Silva
Kazuyoshi Hosomichi
Vanessa I. Romero

Frontiers in Genetics

doi 10.3389/fgene.2024.1354632

214 views

Original Research

Published on 06 Jan 2025

An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

in Genetics of Common and Rare Diseases

Xiaoyan Tan
Yi Yang
Xia Wu
Jing Zhu
Teng Wang
Huihui Jiang
Shu Chen
Shifeng Lou

Frontiers in Genetics

doi 10.3389/fgene.2024.1500167

233 views

Review

Published on 06 Jan 2025

Marfan syndrome: insights from animal models

in Genetics of Common and Rare Diseases

Yuanyuan Jiang
Ping Jia
Xiaoying Feng
Dingding Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1463318

240 views

Original Research

Accepted on 03 Jan 2025

The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome

in Genetics of Common and Rare Diseases

Min Xu
Yujie Shi
Li Lin
Liang Wang
Xianzhong Zhu
Jinglin Xiong
Jiawen Yin
Qing Qi
Wenlin Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1475054

Case Report

Published on 03 Jan 2025

Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome

in Genetics of Common and Rare Diseases

Qing Shao
Qiang Jiang
Yuqi Luo
Yimei Meng
Guoyu Tian
Xiao Yin

Frontiers in Genetics

doi 10.3389/fgene.2024.1439905

258 views

Case Report

Accepted on 31 Dec 2024

Ar ticle Type: Case Repor t Identification of a Novel SPTB Gene Splicing Mutation in Her editar y Spher ocytosis: A Case Repor t and Diagnostic Insights

in Genetics of Common and Rare Diseases

Yongsheng Liu
Tingqiang Zhang
Xiaobing Li
Li Zhang
Li Wang
Qian Li
Qianqian Liu
Xuemei Li
Chengyin He
Junling Tang

Frontiers in Genetics

doi 10.3389/fgene.2024.1522204

Case Report

Accepted on 31 Dec 2024

Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: A Case Report

in Genetics of Common and Rare Diseases

Mingyue ZHUANG
Yonglong Xu
Shiyi Zhong
Ziyuan Tian
Qingwu Liu
Ding Quan Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1491870

Case Report

Published on 23 Dec 2024

Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene

in Genetics of Common and Rare Diseases

Lixue Ouyang
Fan Yang
Hongyu Duan
Chuan Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1453195

429 views

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Articles

Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever

Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency

Increased cardiac macrophages in Sorbs2-deficient hearts: revealing a potential role for macrophage in responding to embryonic myocardial abnormalities

Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation

Genetic variation in patent foramen ovale: a case-control genome-wide association study

Case Report: Discovery of Novel CTNNB1 Mutations and Comparison of Clinical Characteristics in Two Patients with NEDSDV

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

Comprehensive systematic review and meta-analysis of the TGF-β1 T869C gene polymorphism and autoimmune disease susceptibility

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care

An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

Marfan syndrome: insights from animal models

The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome

Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome

Ar ticle Type: Case Repor t Identification of a Novel SPTB Gene Splicing Mutation in Her editar y Spher ocytosis: A Case Repor t and Diagnostic Insights

Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: A Case Report

Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene