Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Case Report

Published on 17 Feb 2026

Complex de novo tetrasomy and trisomy of 2p22.2 involving EIF2AK2 in a child with global developmental delay: a case report and literature review

in Genetics of Common and Rare Diseases

Jun Wang
Xin Duan
Chaolong Xu
Tianyu Song
Danmin Shen
Fang Fang

Frontiers in Pediatrics

doi 10.3389/fped.2026.1755339

228 views

Case Report

Published on 16 Feb 2026

Case Report: Dominant deafness-onychodystrophy syndrome and hypokalemic periodic paralysis in a single patient: a rare syndromic overlap

in Genetics of Common and Rare Diseases

Dong-Lan Luo
Rui-Ping Liu
Xin-Yi Hou
Zhi Liu
Bin Lu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1674481

265 views

Case Report

Accepted on 11 Feb 2026

Long-term follow-up of a school boy with Gitelman Syndrome and epilepsy: Causation or coincidence?

in Genetics of Common and Rare Diseases

Jiao Xue
Ying Zhang
Hongshan Zhao
Fei Li
Chengqing Yang
Zhi Yi
Kaixuan Liu
Zhenfeng Song

Frontiers in Pediatrics

Original Research

Accepted on 09 Feb 2026

Assessment of Biotinidase Activity Changes Over Time in Biotinidase Deficient Patients

in Genetics of Common and Rare Diseases

Aliye Gülbahçe
Ahmet Muderrisoglu
Hatice Güneş
Murat Erdogan
Munis Dundar
Fatih Kardaş

Frontiers in Pediatrics

Case Report

Published on 09 Feb 2026

Progressive encephalopathy associated with novel compound heterozygous NAXE mutations in a Chinese patient: case report and literature review

in Genetics of Common and Rare Diseases

Yanjie Zhu
Peifeng He
Rong Luo
Xiaolu Chen

Frontiers in Pediatrics

doi 10.3389/fped.2026.1766864

367 views

Case Report

Published on 06 Feb 2026

Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome

in Genetics of Common and Rare Diseases

Takato Akiba
Shino Shimada
Michiaki Ikegami
Naoto Nishizaki
Akane Hashizume
Taiji Nozaki
Yoji Nagashima
Akira Tsujimura
Nana Nakazawa-Tanaka
Go Miyano

Frontiers in Pediatrics

doi 10.3389/fped.2026.1756327

377 views

Case Report

Published on 05 Feb 2026

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review

in Genetics of Common and Rare Diseases

Yige Zhang
Xiaoyan Shi
Xiao Xiao
Shuhua Yuan
Jihong Tang

Frontiers in Pediatrics

doi 10.3389/fped.2026.1739490

447 views

Case Report

Published on 05 Feb 2026

Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children

in Genetics of Common and Rare Diseases

Zhenzhen Chen
Landi Lai
Xiaomei Lu
Bomao Zhong
Qi Peng
Ziqiang Liu

Frontiers in Pediatrics

doi 10.3389/fped.2026.1725574

478 views

Review

Published on 04 Feb 2026

Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases

in Genetics of Common and Rare Diseases

Chengcheng Wang
Dongxia Hou
Gang Wang
Xi Wu
Zhiyong Zhou
Lina Yang
Ying Liu
Xiaohua Wang

Frontiers in Pediatrics

doi 10.3389/fped.2026.1734842

506 views

Original Research

Published on 03 Feb 2026

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review

in Genetics of Common and Rare Diseases

Miaomiao Li
Shiqi Wang
Guimei Pan
Zixia Zhang
Xi Wang
Jiaqian Hu
Mengqin Wang
Mengmeng Du
Haiyan Wei
Yongxing Chen

Frontiers in Pediatrics

doi 10.3389/fped.2026.1742479

556 views

Case Report

Published on 30 Jan 2026

Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract

in Genetics of Common and Rare Diseases

Xingwang Gong
Yue Liu
Hui Liang

Frontiers in Pediatrics

doi 10.3389/fped.2026.1714952

341 views

Case Report

Published on 12 Jan 2026

Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family

in Genetics of Common and Rare Diseases

Faisal O. AlQurashi
Bashayer S. Alawam
Bader Alhaddad
Zahra A. Alrebh

Frontiers in Pediatrics

doi 10.3389/fped.2025.1726800

686 views

Case Report

Published on 01 Dec 2025

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature

in Genetics of Common and Rare Diseases

Giulia Ferrera
Giorgia Segre
Eleonora Lamantea
Daniele Ghezzi
Marta Rivelli
Anna Ardissone

Frontiers in Pediatrics

doi 10.3389/fped.2025.1699348

1,267 views

Review

Published on 01 Dec 2025

Rapid whole genome sequencing in newborn screening for metabolic diseases

in Genetics of Common and Rare Diseases

Jun Zheng
Xin Yang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1686738

1,692 views

Original Research

Published on 28 Nov 2025

Epidemiological characteristics and disease burden of childhood neuroblastoma in Asia: trends and regional differences over the past 30 years

in Genetics of Common and Rare Diseases

Zexi Li
Jing Liu
Yurui Wu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1701746

1,060 views

Systematic Review

Published on 26 Nov 2025

Influence of gestational history on neural tube defects and Eisenmenger syndrome: associations with intellectual disability and visual impairment in children and adults – a systematic review

in Genetics of Common and Rare Diseases

Dianasari
Chamelia Rohadatul ‘Aissy
R. Mohamad Javier
Gabriela Nativity
Syarif Syamsi Ahyandi
Siti Hani Amiralevi
Faisal Gani Putra Arlond
Khomariyana Purnama Sari
Mohammad Reza Riandata
Crysciando Jefryco Putra

Frontiers in Pediatrics

doi 10.3389/fped.2025.1522839

1,568 views

Original Research

Published on 21 Nov 2025

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024

in Genetics of Common and Rare Diseases

Ming-ming Ou
Chun-tao Sun
Li Zhang
Ling-li Kong
Lin-xin Zhang
Jun Zheng
Pei-ying Zhang
Yu-mei Wang
Xiao-fei Lin
Xin Yang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1629840

1,057 views

Review

Published on 05 Nov 2025

From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome

in Genetics of Common and Rare Diseases

Hong Li
Junling Shen
Mei Tang
Siran Wan
Shunhong Zhang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1658654

1,654 views

Case Report

Published on 28 Oct 2025

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review

in Genetics of Common and Rare Diseases

Yuqian Wang
Xin Peng
Jing Zhu
Ning Zou
Xiaotong Yu
Liu Yang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1690056

1,287 views

Original Research

Published on 24 Oct 2025

Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy

in Genetics of Common and Rare Diseases

Ning Li
Chen Chen

Frontiers in Pediatrics

doi 10.3389/fped.2025.1651524

933 views

Case Report

Published on 24 Oct 2025

A novel frameshift STAG1 variant exhibiting haploinsufficiency due to the nonsense-mediated mRNA decay: a case report and literature review

in Genetics of Common and Rare Diseases

Cuicui Jiang
Ke Wu
Ying Zhou

Frontiers in Pediatrics

doi 10.3389/fped.2025.1648430

1,290 views

Case Report

Published on 23 Oct 2025

Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties

in Genetics of Common and Rare Diseases

Fangjian Gao
Shuyan Li
Li Hu
Yali Zeng
Jianwu Qiu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1618512

1,842 views

Case Report

Published on 23 Oct 2025

De novo missense mutation in MYT1l leading to autosomal dominant intellectual disability 39 and autism spectrum disorder: a case report

in Genetics of Common and Rare Diseases

Xin Wang
Shuangzhu Lin
Yang Chen
Yangfan Qi
Xiaoyu Sun
Wanqi Wang
Kai Jiang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1672911

1,296 views

Original Research

Published on 21 Oct 2025

A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family

in Genetics of Common and Rare Diseases

Qi Yang
Qiang Zhang
Sheng Yi
Gaojie Huang
Xunzhao Zhou
Shang Yi
Jingsi Luo

Frontiers in Pediatrics

doi 10.3389/fped.2025.1699544

1,232 views
1 citation

469 articles

articles

Complex de novo tetrasomy and trisomy of 2p22.2 involving EIF2AK2 in a child with global developmental delay: a case report and literature review

Case Report: Dominant deafness-onychodystrophy syndrome and hypokalemic periodic paralysis in a single patient: a rare syndromic overlap

Long-term follow-up of a school boy with Gitelman Syndrome and epilepsy: Causation or coincidence?

Assessment of Biotinidase Activity Changes Over Time in Biotinidase Deficient Patients

Progressive encephalopathy associated with novel compound heterozygous NAXE mutations in a Chinese patient: case report and literature review

Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review

Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children

Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review

Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract

Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature

Rapid whole genome sequencing in newborn screening for metabolic diseases

Epidemiological characteristics and disease burden of childhood neuroblastoma in Asia: trends and regional differences over the past 30 years

Influence of gestational history on neural tube defects and Eisenmenger syndrome: associations with intellectual disability and visual impairment in children and adults – a systematic review

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024

From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review

Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy

A novel frameshift STAG1 variant exhibiting haploinsufficiency due to the nonsense-mediated mRNA decay: a case report and literature review

Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties

De novo missense mutation in MYT1l leading to autosomal dominant intellectual disability 39 and autism spectrum disorder: a case report

A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family