Send to

Choose Destination
See comment in PubMed Commons below
Am J Med Genet A. 2006 Oct 1;140(19):2110-4.

CHD7 gene and non-syndromic cleft lip and palate.

Author information

Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.


Cleft lip and palate is a common birth defect that has a complex etiology resulting from an interaction of genetic and environmental factors. Few genes are known to contribute to its etiology. CHARGE syndrome is a common multiple malformation syndrome in which 20-36% of the cases have clefting. CHARGE is caused by mutations or deletions in the CHD7 gene. We analyzed the coding regions of CHD7 in nine CHARGE cases and identified five mutations, four of which were novel. We sequenced selected CHD7 exons in non-syndromic clefting cases from Iowa and Philippines populations, as well as matched controls. Variants in non-syndromic cases were found, however, the numbers were not statistically different from the controls. Association analysis of three single nucleotide polymorphisms (SNPs) using 878 case-parent triads from Iowa and Philippines population showed no significant overtransmission. Mutations in CHD7 are not common in isolated clefting cases and we found minimal evidence that CHD7 can act as a modifier for non-syndromic clefting.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Support Center