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Diagnostics
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Insights into Pediatric Genetics
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Insights into Pediatric Genetics

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 March 2026) | Viewed by 9165

Special Issue Editor

Dr. Chunglin Lee

E-Mail Website
Guest Editor
1. Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan
2. Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei 112304, Taiwan
3. Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan
4. Department of Medicine, Mackay Medical College, New Taipei City 25245, Taiwan
5. Department of Nursing, Mackay Junior College of Medicine, Nursing and Management, Taipei 112021, Taiwan
Interests: pediatric genetics; genetic sequencing; rare disorders; genetic diagnosis; precision medicine

Special Issue Information

Dear Colleagues,

The landscape of pediatric medicine has been reshaped by significant advances in genetic sequencing and bioinformatics, revealing deep insights into the genetic foundations of various childhood ailments, both common and rare. Our forthcoming Special Issue, entitled "Insights into Pediatric Genetics," is designed to offer an expansive view of the innovative research and substantial challenges that mark this vibrant field.

We welcome submissions from experts and scholars in forms such as original research, comprehensive reviews, engaging case studies, and brief communications. Key topics include the identification of new genes, relationships between genotypes and phenotypes, molecular diagnostics, screening in newborns, pharmacogenomics, genetic counseling, and ethical issues in pediatric genetic testing. We are particularly interested in contributions that utilize advanced techniques such as next-generation sequencing, single-cell genomics, epigenetic analysis, and various omics methods in pediatric populations.

This Special Issue aims to merge various threads of research into a unified story, enriching our knowledge of genetic disorders in children. Through fostering cross-disciplinary dialogue and the exchange of knowledge, we seek to deepen the exploration of genetic influences on child health. The knowledge derived from this work is expected to enhance diagnostic precision, improve prognostic accuracy, aid in risk assessment, and tailor more personalized treatments for affected youngsters. This Special Issue will be a critical asset for researchers, clinicians, and policymakers engaged in pediatric healthcare, setting the course for future investigations and therapies.

Dr. Chunglin Lee
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pediatric genetics
  • genetic sequencing
  • rare disorders
  • genetic diagnosis
  • precision medicine

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Published Papers (6 papers)

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Research

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14 pages, 758 KB  
Article
Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on PTPN11 c.922A>G Variant and Phenotypic Spectrum
by Florina Victoria Nazarie, Diana Miclea, Crina Șufană, Alina Botezatu, Radu Anghel Popp, Ionela Maria Pascanu, Camelia Alkhzouz, Simona Bucerzan, Călin Lazăr, Cecilia Lazea and Romana Vulturar
Diagnostics 2025, 15(21), 2753; https://doi.org/10.3390/diagnostics15212753 - 30 Oct 2025
Cited by 1 | Viewed by 1140
Abstract
Background: Noonan syndrome (NS) is a genetically heterogeneous condition within the RASopathies spectrum, with distinctive craniofacial features, congenital heart defects, short stature, and variably present developmental delay. Most cases result from variants in genes regulating the RAS/MAPK pathway, with PTPN11 variants being [...] Read more.
Background: Noonan syndrome (NS) is a genetically heterogeneous condition within the RASopathies spectrum, with distinctive craniofacial features, congenital heart defects, short stature, and variably present developmental delay. Most cases result from variants in genes regulating the RAS/MAPK pathway, with PTPN11 variants being the most frequent; the c.922A>G substitution being among the most commonly reported. Methods: This pilot study analyzed clinical and partial genetic features of NS in a cohort from Transylvania, evaluated in the Children’s Emergency Clinical Hospital in Cluj-Napoca. Thirty-one patients fulfilling the Van der Burgt diagnostic criteria (twenty-two males, nine females) were included. Clinical data were systematically reviewed, and targeted molecular testing for the PTPN11 c.922A>G variant was performed. Results: Congenital heart defects were highly prevalent, with pulmonary stenosis representing the most frequent anomaly (54.8%). Craniofacial dysmorphism was observed in 76.7% of cases, cryptorchidism in 50% of the males, and short stature below the third percentile was described in 77.4% of patients. Genetic screening identified the PTPN11 c.922A>G variant in two individuals (6.45%). Additional diagnoses included Williams–Beuren syndrome and a 17q11.2 deletion consistent with Neurofibromatosis–Noonan syndrome, underscoring the clinical and genetic heterogeneity of the cohort. Comparison with international reports highlighted variability in phenotype and variant frequency. Future research directions include Sanger sequencing of key PTPN11 exons and the application of next-generation sequencing targeting all RAS pathway genes. Conclusions: This is the first Romanian cohort study on patients with a clinical suspicion of NS, providing insight into their evaluation. The findings reinforce the need for comprehensive molecular approaches, facilitating diagnostic precision and counseling strategies. Full article
(This article belongs to the Special Issue Insights into Pediatric Genetics)
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15 pages, 1687 KB  
Article
Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador
by María Lucía Castro Moreira, Yorran Hardman Araújo Montenegro, Angélica Salatino-Oliveira, Héctor Quintero Montano, Rodolfo F. Niz Bareiro, Simone Silva dos Santos-Lopes, Thiago Ramos da Silva, Lucas Kelvy Sales Azevedo, Karyme Beatrice Lourenço da Silva, Affonso Weslley de Almeida Moreira, Suzany Silva Araujo, Francyne Kubaski, Franciele Barbosa Trapp, Ana Carolina Brusius-Facchin, Fernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Guilherme Baldo, Roberto Giugliani and Durval Palhares
Diagnostics 2025, 15(18), 2337; https://doi.org/10.3390/diagnostics15182337 - 15 Sep 2025
Cited by 1 | Viewed by 1088
Abstract
Background/Objectives: Sanfilippo Syndrome type B or Mucopolysaccharidosis type IIIB (MPS IIIB, OMIM 252920) is a lysosomal storage disease caused by deficiency of alpha-N-acetylglucosaminidase (NAGLU, E.C. 3.2.1.50) due to pathogenic variants in the NAGLU gene (17q21.2). The disease is characterized by progressive neurological manifestations, [...] Read more.
Background/Objectives: Sanfilippo Syndrome type B or Mucopolysaccharidosis type IIIB (MPS IIIB, OMIM 252920) is a lysosomal storage disease caused by deficiency of alpha-N-acetylglucosaminidase (NAGLU, E.C. 3.2.1.50) due to pathogenic variants in the NAGLU gene (17q21.2). The disease is characterized by progressive neurological manifestations, marked by cognitive decline, with relatively mild somatic involvement. We aim to present relevant information on a cluster of MPS IIIB identified in Ecuador, particularly regarding their clinical, biochemical, genetic, demographic, and ancestry characteristics. Methods: We present a characterization of a clinical, biochemical, genetic and demographic cluster of MPS IIIB patients in Ecuador, located in four main regions: Manabí, Guayas, Los Ríos, and Santo Domingo de los Tsáchilas. The patients included were diagnosed due to increased levels of urinary glycosaminoglycans (uGAG), plus deficient activity of NAGLU, and/or identification of biallelic pathogenic mutations in the NAGLU gene. Patients’ charts were reviewed for biochemical findings, medical history, clinical manifestations and assessments. Results: We present the results of clinical, biochemical, genetic and demographic characterization of a cluster in Ecuador with 24 patients identified with Sanfilippo syndrome type IIIB, resulting in an estimated incidence of 1.5/100,000. The mean age at diagnosis was 8.8 years, with symptom onset at 4.5 years on average. All patients exhibited elevated levels of uGAG and undetectable NAGLU activity, and all of them presented the c.1487T>C (p.Leu496Pro) variant in the NAGLU gene in homozygosis, indicating a possible founder effect, with the exception of one heterozygous one (p.Leu496Pro/p.Arg482Gln). A positive correlation between age of diagnosis and the concentration of one isoform of heparan sulfate (HS-OS) was found (p < 0.05). Clinical findings included neuropsychomotor developmental delay (75%), neurological regression (65%), hepatomegaly (55%), growth deficiency (50%), coarse facies (45%) and hernia (40%). Male patients presented earlier onset of symptoms. Maternal ancestry was successfully determined for 21 of the 24 patients. The majority were of Native American ancestry (71.4%), followed by European (19%), African (4.8%), and Asian (4.8%) lineages. Haplogroup A was the most prevalent (42.9%), followed by haplogroups D (19%), C, U, and H (each 9.5%), and R and L2 (each 4.8%). Conclusions: Ancestry can indicate a possible mechanism to explain the heterogeneous symptomatic presentation. These findings highlight the need for further research on genetic and environmental influences on disease severity in this population. Full article
(This article belongs to the Special Issue Insights into Pediatric Genetics)
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11 pages, 220 KB  
Article
Exonic and Intronic WNT10A Variants Isolated from Korean Children with Non-Syndromic Tooth Agenesis
by Yeonjin Ju, Joo Yeon Lee, Woochang Hwang, Jonghyun Shin, Hyung-Sik Kim, Junho K. Hur and Eungyung Lee
Diagnostics 2025, 15(3), 310; https://doi.org/10.3390/diagnostics15030310 - 28 Jan 2025
Viewed by 2220
Abstract
Background/Objectives: Tooth agenesis (TA) is a developmental anomaly prevalent in humans. It is particularly significant in children and adolescents because it is related to esthetic, physiological, and functional problems, including malocclusion, periodontal damage, and insufficient alveolar growth. WNT10A mutations have been identified [...] Read more.
Background/Objectives: Tooth agenesis (TA) is a developmental anomaly prevalent in humans. It is particularly significant in children and adolescents because it is related to esthetic, physiological, and functional problems, including malocclusion, periodontal damage, and insufficient alveolar growth. WNT10A mutations have been identified as the main genetic alterations associated with tooth agenesis. Most previous studies have investigated WNT10A mutations in patients with tooth agenesis using single nucleotide polymorphism (SNP) arrays or exome sequencing. In this study, we conducted a comprehensive profiling of mutations within the exons and introns of WNT10A in Korean patients with non-syndromic tooth agenesis. Methods: Saliva samples were collected from Korean children and adolescents with non-syndromic tooth agenesis. Tagmentation-based sequencing was conducted to acquire mutation information for all exonic and intronic bases of the WNT10A gene. Results: Mutations were detected exclusively in the patient samples: 629C>G and 1100C>T in exon 1, 1977T>C in intron 1, 10256C>T and 10382G>A in exon 3, and 15953G>A in intron 4. Additional mutations were also observed at high ratios in the patient samples. Conclusions: The mutations identified in this study differ from previous findings. These results may provide useful information for understanding the pathogenicity of WNT10A mutations in Korean patients with tooth agenesis and support future diagnostic and therapeutic approaches. Full article
(This article belongs to the Special Issue Insights into Pediatric Genetics)

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10 pages, 981 KB  
Case Report
First Symptomatic Pediatric Case of Hb Rothschild (HBB: c.112T>C, p.Trp38Arg): Low-Oxygen-Affinity Hemoglobin Presenting with Persistent Pseudohypoxemia
by Ekaterina Nuzhnaya, Andrey Marakhonov, Artem Ivanov, Yulia Lashkova, Ivan Kuznetsov, Tatiana Kulichenko, Ksenya Zabudskaya, Oxana Ryzhkova, Nikolay Zernov and Natalia Semenova
Diagnostics 2025, 15(24), 3181; https://doi.org/10.3390/diagnostics15243181 - 12 Dec 2025
Viewed by 550
Abstract
Background: Hemoglobin Rothschild (Hb Rothschild), NM_000518.5(HBB):c.112T>C, is an ultra-rare low-oxygen-affinity hemoglobin variant that persistently causes reduced peripheral oxygen saturation on pulse oximetry despite normal arterial oxygenation. Fewer than ten cases have been reported worldwide, and only one involved a child—an [...] Read more.
Background: Hemoglobin Rothschild (Hb Rothschild), NM_000518.5(HBB):c.112T>C, is an ultra-rare low-oxygen-affinity hemoglobin variant that persistently causes reduced peripheral oxygen saturation on pulse oximetry despite normal arterial oxygenation. Fewer than ten cases have been reported worldwide, and only one involved a child—an asymptomatic carrier identified incidentally. Methods: The patient underwent clinical examination, growth assessment, blood tests, hemoglobin electrophoresis, chest CT, abdominal ultrasound, echocardiography, and pulmonary perfusion scintigraphy. Whole genome sequencing (WGS) of the proband and parents was performed, followed by bioinformatic analysis and ACMG-based variant interpretation. A PRISMA-guided PubMed literature review was conducted. Results: We report on the first pediatric case exhibiting a symptomatic clinical course. A 4-year-old boy was referred for chronically low peripheral oxygen saturation (SpO2), 78–86%, on pulse oximetry and recurrent lower respiratory tract infections. Early developmental history revealed episodes of apnea in infancy, perioral cyanosis, poor exercise tolerance, and low weight gain. Repeated cardiopulmonary assessments, chest computed tomography (CT), echocardiography, and pulmonary perfusion scintigraphy yielded unremarkable findings. Arterial blood gas analysis consistently showed normal arterial partial pressure of oxygen (PaO2), excluding true hypoxemia. Hemoglobin electrophoresis revealed an abnormal HbD fraction; WGS identified a heterozygous variant NM_000518.5(HBB):c.112T>C inherited from the patient’s asymptomatic father. This variant increases the partial pressure of oxygen at which hemoglobin is 50% saturated (p50), thereby decreasing hemoglobin’s oxygen affinity and shifting the oxyhemoglobin dissociation curve to the right. These alterations explain the discordance between low peripheral oxygen saturation (SpO2) and preserved oxygen delivery to tissues. Conclusions: This case expands the clinical spectrum of Hb Rothschild and demonstrates that symptomatic presentation may occur in early childhood. Awareness of low-affinity hemoglobin variants is essential to avoid misdiagnosis and unnecessary cardiopulmonary interventions. Early genetic testing facilitates accurate diagnosis and appropriate counseling. Full article
(This article belongs to the Special Issue Insights into Pediatric Genetics)
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13 pages, 2565 KB  
Brief Report
Recessive SMC5 Variants in a Family with Near-Tetraploidy/Mosaic Variegated Aneuploidy
by Yongjia Yang, Nian Li, Cheng Liu, Songting Li, Ming Tu, Liu Zhao, Fang Shen, Yu Zheng, Hua Wang and Sha Zhao
Diagnostics 2025, 15(23), 3022; https://doi.org/10.3390/diagnostics15233022 - 27 Nov 2025
Viewed by 685
Abstract
Background/Objectives: Mosaic variegated aneuploidy (MVA) is a rare chromosomal instability disorder. Biallelic variants in SMC5, a core component of the DNA repair machinery, cause Atelis Syndrome, characterized by severe growth failure and multi-system abnormalities. This study aimed to identify the genetic cause in [...] Read more.
Background/Objectives: Mosaic variegated aneuploidy (MVA) is a rare chromosomal instability disorder. Biallelic variants in SMC5, a core component of the DNA repair machinery, cause Atelis Syndrome, characterized by severe growth failure and multi-system abnormalities. This study aimed to identify the genetic cause in a patient with MVA and a distinct, milder phenotype. Methods: We conducted comprehensive clinical and cytogenetic assessments, chromosomal karyotyping, and trio-based exome sequencing on a proband with hypospadias and chromosomal instability. Identified variants were validated by Sanger sequencing and assessed for pathogenicity using ACMG/AMP guidelines. Results: Cytogenetic analysis revealed near-tetraploidy (9.7%) and MVA (46.9%). Exome sequencing identified novel compound heterozygous SMC5 variants, a nonsense c.2221G>T (p.Glu741Ter) and a missense c.3065A>G (p.Asn1022Ser), both predicted to disrupt SMC5/6 complex function. The proband presented with hypospadias and mild developmental delay but lacked the severe neurological, cardiac, or hematological manifestations typical of Atelis Syndrome. Karyotype analysis showed a distinct pattern of chromosomal abnormalities, including a high frequency of marker chromosomes. Conclusions: This report expands the genotypic and phenotypic spectrum of SMC5-related disorders, confirming its association with MVA/near-tetraploidy and describing a novel attenuated clinical presentation. The findings highlight distinct cytogenetic patterns potentially differentiating DNA repair-defective MVA from other subtypes. Full article
(This article belongs to the Special Issue Insights into Pediatric Genetics)
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9 pages, 729 KB  
Brief Report
Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome
by Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin and Shuan-Pei Lin
Diagnostics 2024, 14(16), 1815; https://doi.org/10.3390/diagnostics14161815 - 20 Aug 2024
Viewed by 2587
Abstract
Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese patient group of 23 patients. KMT2D variants were [...] Read more.
Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese patient group of 23 patients. KMT2D variants were found in 22 individuals, with missense (26.1%), nonsense (21.7%), and frameshift (17.4%) variants being the most prevalent. One patient had a KMT2D variant of uncertain significance. The most common clinical characteristics included distinct facial features (100%), intellectual disability (100%), developmental delay (95.7%), speech delay (78.3%), hypotonia (69.6%), congenital heart abnormalities (69.6%), and recurrent infections (65.2%). Other abnormalities included hearing loss (39.1%), seizures (26.1%), cleft palate (26.1%), and renal anomalies (21.7%). This study broadens the mutational and phenotypic spectrum of KS in the Taiwanese population, highlighting the importance of comprehensive genetic testing and multidisciplinary clinical evaluations for diagnosis and treatment. Full article
(This article belongs to the Special Issue Insights into Pediatric Genetics)
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