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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 by Hatem Zayed; Ryan Chao; Ali Moshrefi; Nelson LopezJimenez; Allen Delaney; Justin Chen; Gary M. Shaw; Anne M. Slavotinek is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract Using an Affymetrix GeneChip® 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 pati

Who reads 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?

Author

Hatem Zayed; Ryan Chao; Ali Moshrefi; Nelson LopezJimenez; Allen Delaney; Justin Chen; Gary M. Shaw; Anne M. Slavotinek

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)

Published

2010

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)