title: Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?
abstract: 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.
authors.affiliation: Department of Human Genetics, University of Alabama at Birmingham, 619 19th Street South, OHB 450, Birmingham, AL 35249-7333, USA. jbiggio@uab.edu
authors.forename: Joseph R
authors.initials: JR
authors.lastname: Biggio
authors.forename: Maria D
authors.initials: MD
authors.lastname: Descartes
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Carroll
authors.forename: R Lynn
authors.initials: RL
authors.lastname: Holt
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D026161:MADS Domain Proteins; D064326:MEF2 Transcription Factors; D018006:Myogenic Regulatory Factors; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D026161:MADS Domain Proteins; D064326:MEF2 Transcription Factors; C578035:MEF2A protein, human; D018006:Myogenic Regulatory Factors; D014157:Transcription Factors