Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 01 May 2025

Identification of potential crucial genes and mechanisms associated with metabolically unhealthy obesity based on the gene expression profile

in Genetics of Common and Rare Diseases

Qingqing Wang
Silu Wang
Zhanyu Zhuang
Xueting Wu
Hongkun Gao
Tianyi Zhang
Guorong Zou
Xing Ge
Yapeng Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1540721

214 views

Correction

Accepted on 30 Apr 2025

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases

in Genetics of Common and Rare Diseases

Xuejun Ouyang
Dazhi Chi
Yu Zhang
Tian Yu
Qian Zhang
Lei Xu
Victor, Wei Zhang
Bin Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1620297

Original Research

Accepted on 29 Apr 2025

Outcomes of Cochlear Implants in Patients with PCDH15 Mutations: A Clinical Study

in Genetics of Common and Rare Diseases

Qingling Bi
Zhongyan Chen
Baoling Kang
Yong Lv
Yongyi Yuan
Yang Liu
Jianfeng Liu
Yuan Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1541333

Original Research

Accepted on 28 Apr 2025

A Novel Loss-of-function SYCP2 Variant Causes Asthenoteratozoospermia in Infertile Males

in Genetics of Common and Rare Diseases

Cong Liu
Yinfeng Zhang
Youming Zhao
Haining Luo

Frontiers in Genetics

doi 10.3389/fgene.2025.1595720

Case Report

Accepted on 28 Apr 2025

Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases

in Genetics of Common and Rare Diseases

Ruxuan Zhang
Tingting Hu
Shuai Wang
Yiping Cheng
Dandan Luo
Dongmei Zheng
Xinli Zhou

Frontiers in Genetics

doi 10.3389/fgene.2025.1570141

Brief Research Report

Accepted on 25 Apr 2025

Molecular Variants of Multiple Genes were Revealed by Whole-Exome Sequencing in PCOS Patients with Diabetes

in Genetics of Common and Rare Diseases

Chenglin Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1541946

Original Research

Published on 25 Apr 2025

Relationship of VDR and VDBP gene polymorphisms with sepsis susceptibility and prognosis

in Genetics of Common and Rare Diseases

Chan Lian
Kangtai Ying
Haiyan Shao
Haiting Gu
Wenwei Mao

Frontiers in Genetics

doi 10.3389/fgene.2025.1590750

237 views

Case Report

Published on 25 Apr 2025

Prenatal diagnosis of a compound heterozygous variation in the FBXL4 gene by trio-WES and imaging monitoring: a case report

in Genetics of Common and Rare Diseases

Yujia Zhai
Jing Chen
Shuo Yang
He Wang
Yuanyuan Xiao
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1539288

331 views

Original Research

Accepted on 22 Apr 2025

Unveiling the Molecular Landscape of δ-thalassemia and δ-globin variants in Southern China: Novel Mutations, gene spectrum, and Implications for Thalassemia Diagnosis

in Genetics of Common and Rare Diseases

Youqiong Li
Lihua Ye
Liang Liang
Lihong Zheng
Yongjun Xiao
Zhongchan Lao
Jinping Bai
Xi He
Qixun Fang
Ting Qin

Frontiers in Genetics

doi 10.3389/fgene.2025.1584310

Original Research

Accepted on 22 Apr 2025

Identification of Candidate Genes Harboring Pathogenic Variants in Congenital Heart Disease and Laterality Defects in Chinese population

in Genetics of Common and Rare Diseases

Jinxin Wang
Weicheng Chen
Xianghui Huang
Han Gao
Zhiyu Feng
Chaozhong Tan
Quannan Zhuang
YUAN GAO
Shaojie Min
Yuquan Lu

Frontiers in Genetics

doi 10.3389/fgene.2025.1582718

110 views

Original Research

Accepted on 22 Apr 2025

Clinical Features and Genetic Analysis of a Family with t(5;9)(p15;p24) Balanced Translocation Leading to Cri-du-chat Syndrome in Offspring

in Genetics of Common and Rare Diseases

Jing Zhao
Ping Chen
Yijia Ren
Shurong Li
Weiyi Zhang
Yan Li
Fengyu Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1550937

Case Report

Published on 22 Apr 2025

Case report: a case of hypoparathyroidism–sensorineural deafness–renal dysplasia syndrome

in Genetics of Common and Rare Diseases

Jinyan Yang
Yanjie Mei
Feifei Tang
Xinhong Guo
Yanhua Kong
Ying Deng

Frontiers in Genetics

doi 10.3389/fgene.2025.1501427

295 views

Original Research

Published on 22 Apr 2025

Novel ACAD8 variants identified in Isobutyryl-CoA dehydrogenase deficiency: challenges in phenotypic variability and management

in Genetics of Common and Rare Diseases

Yilun Tao
Dong Han
Jianfang Li
Xiaoyun Li
Luna Hao
Wenxia Song
Lihong Wang
Xiaoze Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1532902

373 views

Brief Research Report

Accepted on 21 Apr 2025

Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

in Genetics of Common and Rare Diseases

Xinyue Zhang
Kexin Guo
JiaWei Liu
Xueting Yang
Rui Zhang
Rongrong Wang
Dong-Lai Ma
Xue Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1591409

110 views

Case Report

Accepted on 17 Apr 2025

Autosomal Recessive Primary Microcephaly in Sibs in Time of Zika Epidemic: A Case Report

in Genetics of Common and Rare Diseases

Julia Valeriano de Almeida
Natana Chaves Rabelo
Bianca Barbosa Abdala
Juan Clinton Llerena Junior
Sayonara Gonzalez

Frontiers in Genetics

doi 10.3389/fgene.2025.1565296

132 views

Case Report

Published on 17 Apr 2025

CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report

in Genetics of Common and Rare Diseases

Tanguy Demaret
Damien Feret
Barbara Lambert
Delphine Pranger
Jean-Louis Dargent
Maria Dolores Martin Martinez
Antonio Renda
Isabelle Maystadt

Frontiers in Genetics

doi 10.3389/fgene.2025.1575651

495 views