Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 14 Nov 2025

Familial Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome: a case report

in Genetics of Common and Rare Diseases

Xiang Li
Yuan-Mei Peng
Bo-Wen Luo
Yu-Di Luo
Yun-Rong Qin
Keng Feng
De-Rong Li
Zeng-Yu Yang
Ling-Ling Zhu
Jin-Jie Pan

Frontiers in Genetics

doi 10.3389/fgene.2025.1514856

647 views

Original Research

Published on 14 Nov 2025

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up

in Genetics of Common and Rare Diseases

Panpan Xiao
Yonghua Gu
Xiaolong Qi
Ting Li
Tingting Zuo
Yule Xie
Shuang Zhang
Xunlun Sheng

Frontiers in Genetics

doi 10.3389/fgene.2025.1693876

298 views

Case Report

Published on 14 Nov 2025

Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the SPTB gene that causes hereditary spherocytosis with hemolytic anemia

in Genetics of Common and Rare Diseases

Ke Cao
Xiaojuan Luo
Lianlian Liu
Xiaoning Mao
Ruping Liu
Yunsheng Chen
Santasree Banerjee

Frontiers in Genetics

doi 10.3389/fgene.2025.1626155

379 views

Case Report

Published on 12 Nov 2025

Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH–SCKS in a Chinese pregnant woman across two consecutive pregnancies

in Genetics of Common and Rare Diseases

Tao Zhang
Hua Yuan
Xiaoliang Shi
Yao He
Haitao Pan
Yongxing Zhong
Jintang Zhang
Zhen Yang
Yunyan Ke
Yan Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1646297

493 views

Original Research

Published on 12 Nov 2025

Computational-experimental strategy identifies Co-upregulated biomarkers linking coronary heart disease and type 2 diabetes pathogenesis

in Genetics of Common and Rare Diseases

Wei Li
Yu Cao
Chen Yu
Bingjun Che
Miao He
Dongbiao Li
Lihong Jiang
Lijing Ma

Frontiers in Genetics

doi 10.3389/fgene.2025.1673303

361 views

Original Research

Published on 11 Nov 2025

Germline activating sequence variations in RASopathy spectrum genes: genotype–phenotype correlation in a North Indian cohort

in Genetics of Common and Rare Diseases

Shifali Gupta
Priyanka Srivastava
Roshan Daniel
Chitra Bhardwaj
Parminder Kaur
Pratibha Bawa
Anu Kumari
Ravi Pratap Singh Bhadoriya
Mrinali Peters
Anupriya Kaur

Frontiers in Genetics

doi 10.3389/fgene.2025.1677143

815 views

Original Research

Accepted on 07 Nov 2025

FTO rs9939609 and rs17817449 polymorphisms contribute to metabolic syndrome risk by increasing triglyceride and glucose levels

in Genetics of Common and Rare Diseases

Yongyan Song
Ting Wang
Mi Su
Xue Wang
Youjin Zhang
Jia Pan
Wang Yunhan
Jin Yang

Frontiers in Genetics

136 views

Case Report

Accepted on 07 Nov 2025

MAPT Mutation-Induced Behavioral Variant Frontotemporal Dementia in an Asian Patient: A Multimodal Biomarker Case Report Resolving Diagnostic Challenges with Alzheimer's Disease

in Genetics of Common and Rare Diseases

Yan Zhang
Siwei Chen
Guiying Yan
Zhifei Zhang
- Amina
Ting Wang
Shuang Wang
Chen Zhang
YongAn Sun

Frontiers in Genetics

103 views

Original Research

Published on 07 Nov 2025

Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency

in Genetics of Common and Rare Diseases

Yan Zhou
Linbing Zou
Yaoyao Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1648420

605 views

Case Report

Published on 07 Nov 2025

Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay

in Genetics of Common and Rare Diseases

Junlin Pan
Yan Zhang
Jinwei Hou
Na Shi
Huiling Qu
Longhuan Jiang
Haiping Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1637931

939 views

Original Research

Published on 07 Nov 2025

Precision genomic profiling in Gaucher disease: insights from atypical presentations

in Genetics of Common and Rare Diseases

Armaan Saith
Noor Ul Ain
Jiapeng Ruan
Maniya Kasaiyan
Dhanpat Jain
Gary Israel
Sameet Mehta
Nigel S. Bamford
Shiny Nair
Pramod K. Mistry

Frontiers in Genetics

doi 10.3389/fgene.2025.1553036

766 views

Correction

Published on 07 Nov 2025

Correction: A novel splicing variant in NBAS identified by minigene assay causes infantile liver failure syndrome type 2

in Genetics of Common and Rare Diseases

Anna Hu
Jun Liang
Hongbo Liu
Jinghui Jiang
Fujing Xie
Xin Zhou
Xiaojia Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1722189

485 views

Case Report

Published on 06 Nov 2025

Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders

in Genetics of Common and Rare Diseases

Dmitrii Subbotin
Eugene Tatarskiy
Anna Kuchina
Tatiana Cherevatova
Tatiana Krylova
Oksana Ryzhkova
Mikhail Skoblov
Aysylu Murtazina

Frontiers in Genetics

doi 10.3389/fgene.2025.1699834

613 views

Case Report

Published on 06 Nov 2025

Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China

in Genetics of Common and Rare Diseases

Hui Liu
Gaojie Liu
Lianjun Gao
Hui Wang
Yizhong Wang
Hongfang Ding

Frontiers in Genetics

doi 10.3389/fgene.2025.1631767

485 views

Case Report

Published on 06 Nov 2025

Case Report: Novel compound heterozygous mutations in PNPLA6 gene associated with Oliver-McFarlane syndrome

in Genetics of Common and Rare Diseases

Jia Zheng
Zhe Wang
Keqing Li
Lixia Chen
Yayin Luo
Fei Yu
Dan Wang
Guangxiang Yu

Frontiers in Genetics

doi 10.3389/fgene.2025.1660243

697 views

Case Report

Published on 06 Nov 2025

A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review

in Genetics of Common and Rare Diseases

Hanan Aljedani
Yousef Faden
Manar Alghamdi
Alshaimaa Alzahrani
Aiman Shawli
Reem Albakistani

Frontiers in Genetics

doi 10.3389/fgene.2025.1669947

681 views