TY - JOUR
T1 - Molecular genetics of congenital diaphragmatic defects
AU - Bielinska, Malgorzata
AU - Jay, Patrick Y.
AU - Erlich, Jonathan M.
AU - Mannisto, Susanna
AU - Urban, Zsolt
AU - Heikinheimo, Markku
AU - Wilson, David B.
N1 - Funding Information:
We thank Dr Debra Rita for providing the CT scan. This research was supported by NIH DK52574, Mallinckrodt Foundation, Finnish Pediatric Research Foundation, and the Juselius Foundation. PYJ is a Scholar of the Child Health Research Center of Excellence in Developmental Biology at Washington University School of Medicine (K12 HD001487).
PY - 2007
Y1 - 2007
N2 - Congenital diaphragmatic hernia (CDH) is a severe birth defect that is accompanied by malformations of the lung, heart, testis, and other organs. Patients with CDH may have any combination of these extradiaphragmatic defects, suggesting that CDH is often a manifestation of a global embryopathy. This review highlights recent advances in human and mouse genetics that have led to the identification of genes involved in CDH. These include genes for transcription factors, molecules involved in cell migration, and extracellular matrix components. The expression patterns of these genes in the developing embryo suggest that mesenchymal cell function is compromised in the diaphragm and other affected organs in patients with CDH. We discuss potential mechanisms underlying the seemingly random combination of diaphragmatic, pulmonary, cardiovascular, and gonadal defects in these patients.
AB - Congenital diaphragmatic hernia (CDH) is a severe birth defect that is accompanied by malformations of the lung, heart, testis, and other organs. Patients with CDH may have any combination of these extradiaphragmatic defects, suggesting that CDH is often a manifestation of a global embryopathy. This review highlights recent advances in human and mouse genetics that have led to the identification of genes involved in CDH. These include genes for transcription factors, molecules involved in cell migration, and extracellular matrix components. The expression patterns of these genes in the developing embryo suggest that mesenchymal cell function is compromised in the diaphragm and other affected organs in patients with CDH. We discuss potential mechanisms underlying the seemingly random combination of diaphragmatic, pulmonary, cardiovascular, and gonadal defects in these patients.
KW - Birth defects
KW - Congenital heart defects
KW - Diaphragmatic eventration
KW - Diaphragmatic hernia
KW - Embryonic development
KW - Gonadal sex reversal
UR - http://www.scopus.com/inward/record.url?scp=34250156665&partnerID=8YFLogxK
U2 - 10.1080/07853890701326883
DO - 10.1080/07853890701326883
M3 - Review article
C2 - 17558598
AN - SCOPUS:34250156665
SN - 0785-3890
VL - 39
SP - 261
EP - 274
JO - Annals of Medicine
JF - Annals of Medicine
IS - 4
ER -