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Congenital diaphragmatic hernia: Is 15q26.1‐26.2 a candidate locus?
Author(s) -
Biggio Joseph R.,
Descartes Maria D.,
Carroll Andrew J.,
Holt R. Lynn
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20464
Subject(s) - mef2 , congenital diaphragmatic hernia , diaphragmatic hernia , diaphragm (acoustics) , locus (genetics) , diaphragmatic breathing , abnormality , karyotype , genetics , coarctation of the aorta , candidate gene , breakpoint , biology , hernia , medicine , chromosomal translocation , pathology , chromosome , gene , cardiology , aorta , enhancer , surgery , gene expression , alternative medicine , psychiatry , acoustics , fetus , loudspeaker , pregnancy , physics
Congenital diaphragmatic hernia is a developmental abnormality due to failure of the normal formation of the diaphragm. While the majority of cases are idiopathic, chromosomal abnormalities have been implicated in approximately 15% of cases. Several recent series have suggested that 15q24‐26 is critical in normal development of the diaphragm. We present a patient with a karyotype of 46, XX, del (15)(q26.1) born with a diaphragmatic hernia, coarctation of the aorta, and dysmorphic features. This patient represents the smallest isolated chromosomal aberration on distal 15q reported to date. The DNA regulatory proteins, myocyte‐specific enhancer factor 2 proteins ( MEF2 ), play a critical role in the control of muscle differentiation and development. One member of this gene family, MEF2A , maps to 15q26. We propose that this region is a candidate locus for diaphragmatic hernia and future investigations should examine the role of MEF2A in diaphragm formation. © 2003 Wiley‐Liss, Inc.