NDLI: 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

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Zayed, Hatem Chao, Ryan Moshrefi, Ali Lopezjimenez, Nelson Delaney, Allen Chen, Justin Shaw, Gary M. Slavotinek, Anne M.
Description	Country affiliation: United States Author Affiliation: Zayed H ( Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143-0748, USA.)
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.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.33341
Journal	American Journal of Medical Genetics Part A
Issue Number	4
Volume Number	152A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Chromosome Deletion Chromosomes, Human, Pair 18 Genetics Dna-binding Proteins Hernia, Diaphragmatic Complications Inheritance Patterns Microphthalmos Age Of Onset Amino Acid Substitution Animals Base Pairing Cell Differentiation Dna Mutational Analysis Metabolism Diaphragm Abnormalities Embryology Pathology Embryo, Mammalian Gene Expression Regulation, Developmental Epidemiology In Situ Hybridization, Fluorescence Infant Mice Molecular Sequence Data Nucleic Acid Hybridization Reverse Transcriptase Polymerase Chain Reaction Research Support, N.i.h., Extramural
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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