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Diagnostics
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Genetic Diagnosis of Pediatric Diseases
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Genetic Diagnosis of Pediatric Diseases

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

Deadline for manuscript submissions: closed (30 November 2022) | Viewed by 6546

Special Issue Editor

Prof. Dr. Hyung-Doo Park

E-Mail Website
Guest Editor
Samsung Medical Center, Department of Laboratory Medicine and Genetics, School of Medicine, Sungkyunkwan University, Seoul 06351, Korea
Interests: biochemical genetics; newborn screening; genetic diagnosis; mass spectrometry; clinical chemistry

Special Issue Information

Dear Colleagues,

Among various childhood diseases, when there are no distinctive clinical characteristics, or when imaging and biochemical findings are ambiguous, patients are often not diagnosed promptly and remain untreated. However, in recent years, as genetic testing technology has developed and genetic information about diseases has often been revealed, confirmative diagnosis through genetic testing has become very helpful.

In undiagnosed rare diseases, genetic testing can shorten the diagnosis time of more than 7,000 Mendelian disease patients, thereby improving the clinical prognosis. Genomic tests show a 25–50% diagnosis rate in various diseases, such as developmental disorders, metabolic disorders, intellectual disorders, retinal diseases, muscle diseases, and acute neonatal diseases that require critical care.

There are various genetic testing methods, such as biochemical genetics, cytogenetics, and molecular genetics. This Special Issue, "Genetic Diagnosis of Pediatric Diseases", deals with all cases of diagnosing childhood diseases by employing genetic methods.

Prof. Dr. Hyung-Doo Park
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 100 words) can be sent to the Editorial Office for announcement on this website.

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

  • genetic diagnosis
  • pediatric diseases
  • undiagnosed rare diseases
  • newborn screening
  • inherited metabolic diseases
  • biochemical genetics
  • molecular genetics.

Published Papers (3 papers)

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14 pages, 3069 KiB  
Article
Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status
by Alfred Klausegger, Niklas Jeschko, Markus Grammer, Jan Cemper-Kiesslich, Franz Neuhuber, Anja Diem, Hannelore Breitenbach-Koller, Gabriele Sander, Dieter Kotzot, Johann Wolfgang Bauer and Martin Laimer
Diagnostics 2022, 12(10), 2460; https://doi.org/10.3390/diagnostics12102460 - 11 Oct 2022
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Abstract
Background: Dystrophic Epidermolysis bullosa (DEB) is a rare inherited mechanobullous disease characterised by the hyperfragility of the skin and mucous membranes. It is (typically) caused by (loss-of-function) mutations in the COL7A1 gene that impair the formation of collagen type VII, which represents the [...] Read more.
Background: Dystrophic Epidermolysis bullosa (DEB) is a rare inherited mechanobullous disease characterised by the hyperfragility of the skin and mucous membranes. It is (typically) caused by (loss-of-function) mutations in the COL7A1 gene that impair the formation of collagen type VII, which represents the major constituent of anchoring fibrils within the basement membrane zone of epithelialised tissues. In a 4-year-old patient diagnosed with the clinical features of recessive DEB, genotyping via Next-Generation EB Panel Sequencing initially revealed the homozygosity of the maternal c.425A>G mutation, while the paternal heterozygosity in exon 3 was lacking. This genetic profile suggested incongruent gene transmission due to uniparental isodisomy (UPD) or the occurrence of a hemizygous deletion of unknown size. Methods: Thus, the EB panel sequencing of genomic DNA, followed by a paternity test and analysis of microsatellite markers, as well as multiplex ligation-dependent probe amplification (MLPA) copy number analysis using patient and parental DNA, were performed. Results: This approach revealed a paternally derived hemizygous deletion spanning from exon 3 to exon 118. Linear amplification-mediated PCR (LAM-PCR) determined the breaking points within intron 2 of the COL7A1 gene, comprising a 40kb segment within intron 1 of the adjacent PFKFB4 gene. Conclusion: This report highlights the relevance of advanced molecular profiling to determine new/exceptional/unusual genotypes and the accurate mode of genetic transmission in DEB. Full article
(This article belongs to the Special Issue Genetic Diagnosis of Pediatric Diseases)
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13 pages, 2424 KiB  
Case Report
De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review
by Yu-Min Syu, Juine-Yih Ma, Tzu-Hsuen Ou, Chung-Lin Lee, Hsiang-Yu Lin, Shuan-Pei Lin, Chia-Jung Lee and Chih-Ping Chen
Diagnostics 2022, 12(10), 2306; https://doi.org/10.3390/diagnostics12102306 - 24 Sep 2022
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Abstract
Small supernumerary marker chromosomes (sSMCs) derived from the chromosome 6 short arm are rare and their clinical significance remains unknown. No case with sSMC(6) without centromeric DNA has been reported. Partial trisomy and tetrasomy of distal 6p is a rare but clinically distinct [...] Read more.
Small supernumerary marker chromosomes (sSMCs) derived from the chromosome 6 short arm are rare and their clinical significance remains unknown. No case with sSMC(6) without centromeric DNA has been reported. Partial trisomy and tetrasomy of distal 6p is a rare but clinically distinct syndrome. We report on a de novo mosaic sSMC causing partial tetrasomy for 6p23-p25.3 in a male infant with symptoms of being small for gestational age, microcephaly, facial dysmorphism, congenital eye defects, and multi-system malformation. Conventional cytogenetic analysis revealed a karyotype of 47,XY,+mar [25]/46,XY [22]. Array comparative genomic hybridization (aCGH) revealed mosaic tetrasomy of distal 6p. This is the first case of mosaic tetrasomy 6p23-p25.3 caused by an inverted duplicated neocentric sSMC with characteristic features of trisomy distal 6p. Comparison of phenotypes in cases with trisomy and tetrasomy of 6p23-p25.3 could facilitate a genotype–phenotype correlation and identification of candidate genes contributing to their presentation. The presentation of anterior segment dysgenesis and anomaly of the renal system suggest triplosensitivity of the FOXC1 gene. In patients with microcephaly growth retardation, and malformation of the cardiac and renal systems, presentation of anterior segment dysgenesis might be indicative of chromosome 6p duplication, and aCGH evaluation should be performed for associated syndromic disease. Full article
(This article belongs to the Special Issue Genetic Diagnosis of Pediatric Diseases)
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12 pages, 3547 KiB  
Case Report
Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation
by Anna Djos, Diana Treis, Susanne Fransson, Lena Gordon Murkes, Sandra Wessman, Jurate Ásmundsson, Agneta Markström, Per Kogner and Tommy Martinsson
Diagnostics 2022, 12(9), 2260; https://doi.org/10.3390/diagnostics12092260 - 19 Sep 2022
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Abstract
A preterm infant with central hypoventilation was diagnosed with multifocal neuroblastoma. Congenital anomalies of the autonomic nervous system in association with neuroblastoma are commonly associated with germline mutations in PHOX2B. Further, the ALK gene is frequently mutated in both familial and sporadic [...] Read more.
A preterm infant with central hypoventilation was diagnosed with multifocal neuroblastoma. Congenital anomalies of the autonomic nervous system in association with neuroblastoma are commonly associated with germline mutations in PHOX2B. Further, the ALK gene is frequently mutated in both familial and sporadic neuroblastoma. Sanger sequencing of ALK and PHOX2B, SNP microarray of three tumor samples and whole genome sequencing of tumor and blood were performed. Genetic testing revealed a germline ALK F1174I mutation that was present in all tumor samples as well as in normal tissue samples from the patient. Neither of the patient’s parents presented the ALK variant. Array profiling of the three tumor samples showed that two of them had only numerical aberrations, whereas one sample displayed segmental alterations, including a gain at chromosome 2p, resulting in two copies of the ALK-mutated allele. Whole genome sequencing confirmed the presence of the ALK variant and did not detect any aberrations in the coding or promotor region of PHOX2B. This study is to our knowledge the first to report a de novoALK F1174I germline mutation. This may not only predispose to congenital multifocal neuroblastoma but may also contribute to the respiratory dysfunction seen in this patient. Full article
(This article belongs to the Special Issue Genetic Diagnosis of Pediatric Diseases)
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