Familial congenital diaphragmatic hernia: is an imprinting mechanism involved?

HFZ6 corresponds to the human frizzled-6 gene and is a member of the family of frizzled genes that encode receptors for Wnt proteins, which are secreted proteins involved in cell-cell interaction during embryonic development and tumorigenesis. 16 Moreover, these frizzled genes are homologous to the Drosophila frizzled gene family, a group of homeobox genes determining morphogenesis and planar polarity phenotypes both in Drosophila and vertebrates. 17-19 Frizzled genes have been thought to be related to spatial control during the embryological development of various structures, in particular the heart. 20 Other authors 21-24 and ourselves 25 have found that when CDH is accompanied by other anomalies, these usually involve the heart and CNS, suggesting a developmental association.