Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Case Report

Published on 16 Sep 2025

Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome

in Genetics of Common and Rare Diseases

Lijuan Zhang
Fei Wang
Yanfang Zhu
Hongxiao Zhang
Yahong Liu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1615309

1,399 views

Case Report

Published on 12 Sep 2025

Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome

in Genetics of Common and Rare Diseases

Huafang Jiang
Chaolong Xu
Zhimei Liu
Ruoyu Duan
Xingfeng Yao
Xiaona Fu
Jiatong Xu
Xuejing Kang
Tenghui Yu
Yuanyuan Wang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1608840

1,279 views

Original Research

Published on 05 Sep 2025

Clinical features and infection risks of Chinese children with different types of Gaucher disease

in Genetics of Common and Rare Diseases

Chuan Gan
Yuanyuan Wu
Tao Qin

Frontiers in Pediatrics

doi 10.3389/fped.2025.1595394

1,642 views

Original Research

Published on 04 Sep 2025

Paternal mosaicism in ASXL3-related bainbridge-ropers syndrome: implications for genetic counseling and prenatal diagnosis

in Genetics of Common and Rare Diseases

Bowen Zhao
Fengjuan Ding
Fei Hou
Hua Jin

Frontiers in Pediatrics

doi 10.3389/fped.2025.1655021

1,339 views

Case Report

Published on 04 Sep 2025

Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report

in Genetics of Common and Rare Diseases

Jiaojiao Yin
Dan Huang
Zhenya Liu
Enpeng Zhu
Chong Zhang
Linyan Wang
Bing Li

Frontiers in Pediatrics

doi 10.3389/fped.2025.1587175

1,393 views

Case Report

Published on 03 Sep 2025

Case Report: A case of Poirier–Bienvenu neurodevelopmental syndrome manifesting primarily as eyelid myoclonia

in Genetics of Common and Rare Diseases

Yuanyuan He
Qingqing Deng
Chen Chen
Zhanli Liu
Lingwei Weng

Frontiers in Pediatrics

doi 10.3389/fped.2025.1583346

1,291 views

Case Report

Published on 26 Aug 2025

Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin–Siris syndrome 9 (CSS9) and literature review

in Genetics of Common and Rare Diseases

Ruohao Wu
Yu Li
Zhanwen He
Zhe Meng
Wenting Tang
Liyang Liang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1603863

1,527 views
1 citation

Original Research

Published on 21 Aug 2025

Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort

in Genetics of Common and Rare Diseases

Paula Rueda-Gaitán
Diego Alejandro Rodríguez Gutiérrez
Yuri Natalia Sanchez Rubio
Yina D. Carrillo
Leslie Ivonne Martínez de la Barrera
Néstor Nenroth Muñetones Reina
Mario Isaza-Ruget
Juan Javier López Rivera

Frontiers in Pediatrics

doi 10.3389/fped.2025.1605166

1,321 views

Case Report

Published on 21 Aug 2025

Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation

in Genetics of Common and Rare Diseases

Yujing Li
Yihong Ding
Enzhong Jin
Hong Yin

Frontiers in Pediatrics

doi 10.3389/fped.2025.1573886

1,746 views
1 citation

Original Research

Published on 20 Aug 2025

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family

in Genetics of Common and Rare Diseases

Qi Yang
Qiang Zhang
Sheng Yi
Wurui Li
Xunzhao Zhou
Shujie Zhang
Shang Yi
Qinle Zhang
Jingsi Luo

Frontiers in Pediatrics

doi 10.3389/fped.2025.1651803

1,277 views

Original Research

Published on 20 Aug 2025

Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis

in Genetics of Common and Rare Diseases

Meiying Cai
Na Lin
Ziheng Xiao
Hailong Huang
Lin Zheng
Liangpu Xu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1496381

1,397 views

Correction

Published on 12 Aug 2025

Correction: Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure

in Genetics of Common and Rare Diseases

Sarah Householder
Ruchit Nagar
Nisarg Shah
Jodi Forward
Sean Bickerton
Pramod Mistry
E. Vincent S. Faustino

Frontiers in Pediatrics

doi 10.3389/fped.2025.1651138

997 views

Case Report

Published on 11 Aug 2025

Case Report: Incidental diagnosis of cystic fibrosis via whole genome sequencing alters HSCT planning in a child with cerebral X-linked adrenoleukodystrophy

in Genetics of Common and Rare Diseases

Jann Adriel Chua Sy
Poh Lin Tan
Jeremy Bingyuan Lin
Stacey Kiat-Hong Tay
Hui-Lin Chin

Frontiers in Pediatrics

doi 10.3389/fped.2025.1650645

1,843 views

Case Report

Published on 07 Aug 2025

Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome

in Genetics of Common and Rare Diseases

Hoon Seok Kim
Myungshin Kim
Jin-Soon Suh
Yeonhee Lee

Frontiers in Pediatrics

doi 10.3389/fped.2025.1639471

1,711 views

Case Report

Published on 07 Aug 2025

Case Report: New genetic variant and widely different phenotypes observed in twins with Vanishing White Matter disease

in Genetics of Common and Rare Diseases

Ellis Oron-Lexner
Bjørk Ditlev Larsen
Maria Therese Schelde-Olesen

Frontiers in Pediatrics

doi 10.3389/fped.2025.1643040

2,185 views

Case Report

Published on 07 Aug 2025

Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature

in Genetics of Common and Rare Diseases

Luca Bosisio
Matteo Cataldi
Marina Grandis
Barbara Tappino
Monica Traverso
Francesco Germano
Lino Nobili
Chiara Fiorillo

Frontiers in Pediatrics

doi 10.3389/fped.2025.1589397

1,980 views

Original Research

Published on 05 Aug 2025

Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review

in Genetics of Common and Rare Diseases

Yahua Zhang
You Wu
Lulu Yan
Yuxin Zhang
Haibo Li
Yan He

Frontiers in Pediatrics

doi 10.3389/fped.2025.1617541

1,583 views

Case Report

Published on 28 Jul 2025

Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report

in Genetics of Common and Rare Diseases

Mengting Ma
Nan Wu
Jie Feng
Xu Sang
Feixiang Duan
Congcong Li
Qiang Zhang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1628525

1,731 views

Case Report

Published on 25 Jul 2025

Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions

in Genetics of Common and Rare Diseases

Xiaoqiang Lian
Haixia Li
Jihong Hao
Haixin Li
Ling Xu
Shuxia Zhang
Li Cao
Ruimin Li

Frontiers in Pediatrics

doi 10.3389/fped.2025.1588675

1,822 views

Original Research

Published on 17 Jul 2025

Research on biliary atresia and epigenetic factors from the perspective of transcriptomics: identification of key genes and experimental validation

in Genetics of Common and Rare Diseases

Zhao Na
Hang Yang
Li Chen
Han Xiao
Bo Hai
Chuanxin Li
Xiaohui Xie
Qiang Bai

Frontiers in Pediatrics

doi 10.3389/fped.2025.1624671

1,849 views

Original Research

Published on 14 Jul 2025

Case report and literature review: novel TXNRD2 compound heterozygous variants in familial glucocorticoid deficiency type 5

in Genetics of Common and Rare Diseases

Xiaoyan Wang
Xiuli Chen
Ting Chen
Rongrong Xie
Qi Lin Chen
Haiying Wu
Fengyun Wang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1585582

1,191 views

Case Report

Published on 10 Jul 2025

PURA syndrome—a genetic cause of a neurodevelopmental disorder—case report

in Genetics of Common and Rare Diseases

Jacek Kobak
Mateusz Szczupak
Karolina Czerkiewicz
Sergiusz Bielocerkowski
Sabina Krupa-Nurcek

Frontiers in Pediatrics

doi 10.3389/fped.2025.1607213

2,710 views

Systematic Review

Published on 04 Jul 2025

Prevalence of IVIG resistance in Kawasaki disease: a systematic review and meta-analysis

in Genetics of Common and Rare Diseases

Shuting Zou
Bingyu Hu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1566590

2,624 views
1 citation

Case Report

Published on 02 Jul 2025

Case Report: Two children with factor XII deficiency caused by novel F12 compound heterozygous variants

in Genetics of Common and Rare Diseases

Rui-Xue Ma
Hai-Yan Li
Yi-Hang Zhang
Xue-Min Zhang
Yan-Juan Chen
Yi-Lin Dai
Gui-Xian Li
Wen-Hai Luo
Jie Zhang
Yun-Fen Tian

Frontiers in Pediatrics

doi 10.3389/fped.2025.1555426

2,141 views

459 articles

articles

Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome

Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome

Clinical features and infection risks of Chinese children with different types of Gaucher disease

Paternal mosaicism in ASXL3-related bainbridge-ropers syndrome: implications for genetic counseling and prenatal diagnosis

Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report

Case Report: A case of Poirier–Bienvenu neurodevelopmental syndrome manifesting primarily as eyelid myoclonia

Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin–Siris syndrome 9 (CSS9) and literature review

Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort

Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family

Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis

Correction: Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure

Case Report: Incidental diagnosis of cystic fibrosis via whole genome sequencing alters HSCT planning in a child with cerebral X-linked adrenoleukodystrophy

Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome

Case Report: New genetic variant and widely different phenotypes observed in twins with Vanishing White Matter disease

Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature

Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review

Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report

Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions

Research on biliary atresia and epigenetic factors from the perspective of transcriptomics: identification of key genes and experimental validation

Case report and literature review: novel TXNRD2 compound heterozygous variants in familial glucocorticoid deficiency type 5

PURA syndrome—a genetic cause of a neurodevelopmental disorder—case report

Prevalence of IVIG resistance in Kawasaki disease: a systematic review and meta-analysis

Case Report: Two children with factor XII deficiency caused by novel F12 compound heterozygous variants