Shh expression analysis in human developmental malformation of the limbs

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Preaxial polydactyly (PPD) is noe of the most frequently observed human developmental malformations of the limbs. PPD locus is mapped to a 450-kb region on chromosome 7q36.The patient, a 3-year-old girl, with bilateral symmetrical duplication of the triphalangeal thumb and triplication of the great toe was examined. The breakpoint lies within the gene C7orf2, one of five transcripts in the PPD critaical region. The Ssq mutant mice was examined. The insertion was found to lie within the same intron of Lmbr1 gene, the mouse ortholog of C7orf2.These results indicate that the C7orf2/Lmbr1 genic region is critical to the PPD phenotype in human and mice.