Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 12 May 2025

Identification of a novel missense variant in the LMX1B gene associated with nail-patella syndrome in a Chinese family

in Genetics of Common and Rare Diseases

Qian Sun
Yaqiong Ren
Yue Cao
Wen Zheng
Guanghao Su
Xiaodong Wang
Hongying Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1574076

910 views

Case Report

Published on 09 May 2025

Case report: 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

1,003 views

Original Research

Published on 09 May 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

710 views

Brief Research Report

Published on 09 May 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
Donglai Ma
Xue Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1591409

885 views

Original Research

Published on 08 May 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

1,079 views

Original Research

Published on 08 May 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

1,215 views

Original Research

Accepted on 05 May 2025

The Clinical and Genetic Profiles of Spinal Muscular Atrophy with Respiratory Distress Type 1 and Identification A Novel Mutation in IGHMBP2 in China

in Genetics of Common and Rare Diseases

Yanjun Wang
Ya Yang
Jingjing Wang
Qian Han
Nana Zhai
Shufang Xiao

Frontiers in Genetics

doi 10.3389/fgene.2025.1594265

128 views

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

970 views

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

703 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

1,021 views

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

813 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

851 views

Original Research

Published on 17 Apr 2025

Identification of a novel homozygous SLC13A5 nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay

in Genetics of Common and Rare Diseases

Hua He
Lijuan Long
Manling Tang
Qiang Xu
Shengwu Duan
Ge Chen
Yan Zhao
Qiongfang Wu
Jia Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1474390

1,098 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

1,197 views

Case Report

Published on 17 Apr 2025

Estrogen-secreting testicular tumors in 46,XY female patients with 17α-hydroxylase/17,20-lyase deficiency: two unusual case reports and a review of the literature

in Genetics of Common and Rare Diseases

Julio Americo Pereira Batatinha
Mirian Yumie Nishi
Rafael Loch Batista
José Antônio Diniz Faria Júnior
Maria Helena Palma Sircili
Francisco Tibor Denes
Maria Jimena Chafloque Mesia
Laura da Silva Salvanini
Elaine Maria Frade Costa
Filomena Marino Carvalho

Frontiers in Genetics

doi 10.3389/fgene.2025.1508792

1,086 views

Case Report

Published on 16 Apr 2025

A novel SIGMAR1 missense mutation leads to distal hereditary motor neuropathy phenotype mimicking juvenile ALS: a case report of China

in Genetics of Common and Rare Diseases

Qinglong Yu
Risna Begam Mohammed Nazar
Sihui Chen
Qiaoling Qian
Junhui Wang
Xueping Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1477518

1,025 views