Frontiers in Genetics | Genetics of Common and Rare Diseases

Case Report

Published on 27 Nov 2025

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation

in Genetics of Common and Rare Diseases

Andrés León
Alex S. Aguirre
Anna Lindstrand
Marlene Ek
Vanessa I. Romero

Frontiers in Genetics

doi 10.3389/fgene.2025.1662915

1,054 views

Correction

Published on 27 Nov 2025

Correction: Validation of a genome-wide polygenic score for body mass index in South Asians

in Genetics of Common and Rare Diseases

Ramesh Menon
Nikhat Khan
Sandeep Charugulla
Akshi Bassi
Pooja Dangare
Akshay Dedaniya
Aakanksha Pant
Rammurthy Anjanappa
Praveena L. Samson
Uthra Satagopan

Frontiers in Genetics

doi 10.3389/fgene.2025.1708353

1,213 views

Original Research

Published on 26 Nov 2025

BAG3-related myofibrillar myopathy: focus on its cardiac involvement

in Genetics of Common and Rare Diseases

Elise Daire
Elena Panaioli
Cyril Gitiaux
Catherine Gardin
Victor Waldmann
Damien Bonnet
Karim Wahbi
Diala Khraiche

Frontiers in Genetics

doi 10.3389/fgene.2025.1636999

1,189 views

Systematic Review

Accepted on 24 Nov 2025

Coffin–Lowry Syndrome: A Systematic Review of RPS6KA3 Confirmed Cases and Implications for Diagnosis and Counseling

in Genetics of Common and Rare Diseases

Sabyasachi Maity
Miranda Montion
Danielle Boothe
Mona Attarpour
Ivy Mageto
Simran Agarwal
Rujul Patel
Chloe Lark
Nemesis Cardona Valentin
Esther Quinones Budel

Frontiers in Genetics

222 views

Original Research

Accepted on 24 Nov 2025

Genomic and Ancestral Variations linked to the Development of Post-Acute Sequelae of SARS-CoV-2 infection in Indian Populations

in Genetics of Common and Rare Diseases

Pooja Shenoy
Hrushikesh Udupa
Ananthakrishnan A.I
Punya Sunil
Urvinder Kaur Sardarni
Narendra Kumar
Arpan Acharya
Siddappa N Byrareddy
Priyanka Upadhyai
Ranajit Das

Frontiers in Genetics

330 views

Original Research

Published on 24 Nov 2025

Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases

in Genetics of Common and Rare Diseases

Dongyi Yu
Dairong Feng
Jiangbo Qu
Lei Nie
Qian Liu
Lu Gao
Wenzhen An
Na Liu
Yuying Fang

Frontiers in Genetics

doi 10.3389/fgene.2025.1662801

1,005 views

Case Report

Published on 21 Nov 2025

Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review

in Genetics of Common and Rare Diseases

Ekaterina Nuzhnaya
Tatiana Cherevatova
Ekaterina Lotnik
Aleksandra Shagiazdanova
Zhanna Markova
Ekaterina Filimonova
Olga Parshina
Anastasiia Buianova
Anastasia Bobreshova
Andrey Marakhonov

Frontiers in Genetics

doi 10.3389/fgene.2025.1670664

980 views

Opinion

Published on 20 Nov 2025

Why all MODY variants in transcription factor genes are dominantly inherited

in Genetics of Common and Rare Diseases

Roman Zug

Frontiers in Genetics

doi 10.3389/fgene.2025.1690468

1,126 views

Original Research

Published on 19 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
Yunhan Wang
Jin Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1659460

1,032 views

Case Report

Published on 18 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
Yong’an Sun

Frontiers in Genetics

doi 10.3389/fgene.2025.1645068

1,116 views

Original Research

Published on 17 Nov 2025

Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutations in a fetus

in Genetics of Common and Rare Diseases

Shanshan Zhai
Limin Yuan
Jing Li
Ling Liu
Lulu Hu
Yanjie Ban
Xuewen Yang
Jie Yang
Xuezhe Ouyang
Nana Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1700635

961 views

Original Research

Published on 17 Nov 2025

Potential marker genes for psoriasis revealed based on single-cell sequencing and Mendelian randomization analysis

in Genetics of Common and Rare Diseases

Ying Dong
Hong-Song Ge
Rui-Xue Chang
Jing Chu

Frontiers in Genetics

doi 10.3389/fgene.2025.1634874

1,828 views

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

1,292 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

883 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

1,046 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

1,184 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

995 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

1,502 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

1,163 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

1,294 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

1,437 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

703 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

1,045 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

1,105 views

1,992 articles

articles

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation

Correction: Validation of a genome-wide polygenic score for body mass index in South Asians

BAG3-related myofibrillar myopathy: focus on its cardiac involvement

Coffin–Lowry Syndrome: A Systematic Review of RPS6KA3 Confirmed Cases and Implications for Diagnosis and Counseling

Genomic and Ancestral Variations linked to the Development of Post-Acute Sequelae of SARS-CoV-2 infection in Indian Populations

Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases

Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review

Why all MODY variants in transcription factor genes are dominantly inherited

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

MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer’s disease

Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutations in a fetus

Potential marker genes for psoriasis revealed based on single-cell sequencing and Mendelian randomization analysis

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

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

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

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

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

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

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

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

Precision genomic profiling in Gaucher disease: insights from atypical presentations

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

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

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