ArticleAmerican journal of medical genetics. Part A2010
A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.
Article in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis.Pediatric surgery international · 2018Pooled it
- Prenatal diagnosis of congenital diaphragmatic hernia with mosaicism of chromosomes 17q and 18q in Iran: a case report.Journal of medical case reports · 2026Article
- Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate.Journal of human genetics · 2025Review
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- Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.Prenatal diagnosis · 2022Article
- The Specific Role of Dermatan Sulfate as an Instructive Glycosaminoglycan in Tissue Development.International journal of molecular sciences · 2022Review
- Introducing Thioredoxin-Related Transmembrane Proteins: Emerging Roles of Human TMX and Clinical Implications.Antioxidants & redox signaling · 2022Review
- A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing.Disease models & mechanisms · 2021Article
- Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.Frontiers in genetics · 2021Review
- A robust 11-genes prognostic model can predict overall survival in bladder cancer patients based on five cohorts.Cancer cell international · 2020Article
- Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.Journal of pediatric genetics · 2018Article
- CCDC102B confers risk of low vision and blindness in high myopia.Nature communications · 2018Article
- Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Disease models & mechanisms · 2017Review
- Characteristics of rare and private deletions identified in phenotypically normal individuals.Human genome variation · 2017Article
- Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.Journal of inherited metabolic disease · 2016Review
- Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.European journal of human genetics : EJHG · 2015Article
- Combined analysis with copy number variation identifies risk loci in lung cancer.BioMed research international · 2014Article
- Human genetic disorders and knockout mice deficient in glycosaminoglycan.BioMed research international · 2014Review
- Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.The Journal of biological chemistry · 2013Review
- Quantitative genomics of 30 complex phenotypes in Wagyu x Angus F₁ progeny.International journal of biological sciences · 2012Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Using an Affymetrix GeneChip(R) Human Mapping 100K Set to study a patient with a late-presenting, right-sided diaphragmatic hernia and microphthalmia, we found a maternally inherited deletion that was 2.7 Mb in size at chromosome 18q22.1. Mapping of this deletion using fluorescence in situ hybridization revealed three deleted genes-CDH19, DSEL, and TXNDC10, and one gene that contained the deletion breakpoint, CCDC102B. We selected DSEL for further study in 125 patients with diaphragmatic hernias, as it is involved in the synthesis of decorin, a protein that is required for normal collagen formation and that is upregulated during myogenesis. We found p.Met14Ile in an unrelated patient with a late-presenting, anterior diaphragmatic hernia. In the murine diaphragm, Dsel was only weakly expressed at the time of diaphragm closure and its expression in C2C12 myoblast cells did not change significantly during myoblast differentiation, thus reducing the likelihood that the gene is involved in myogenesis of the diaphragm. Although it is possible that the 18q22.1 deletion and haploinsufficiency for DSEL contributed to the diaphragmatic defect in the patient, a definite role for DSEL and decorin in the formation of the collagen-containing, central tendon of the diaphragm has not yet been established.
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