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No Evidence for a Role of Genomic Variants in CIT1 in the Etiology of Silver-Russell Syndrome

Silver-Russell syndrome (SRS) 12 is a malformation syndrome associated with intrauterine and postnatal growth retardation (IUGR, PNGR) (<3 percentile), hemihypotrophy of head and limbs, clinodactyly V and characteristic craniofacial features such as macrocephaly and a triangular face (for review see ). A subset of approximately 7-10% of patients with SRS shows maternal uniparental disomy of chromosome 7 (UPD(7)mat) (for review see ). The association of growth deficiency with UPD(7)mat provides strong evidence for the presence of imprinted genes on this chromosome. Indeed, three imprinted genomic regions on chromosome 7 have been detected; several genes in two of these regions (7ql2-ql4 and 7q32-qter) have been proposed to be involved in SRS etiology. One gene is Μ EST/Ρ EG 1 in 7q32 which is imprinted in human and mouse fetal tissues . Lefebvre et al. 6 demonstrated that targeted inactivation of the paternal copy of mouse mest causes IUGR and PNGR. In human, extensive screening studies for genomic variants in the MEST gene did not provide further evidence for a diseasecausing role of this gene . Nevertheless, it can be assumed that other imprinted genes in the neighborhood of MEST might be involved in SRS etiology due to the fact that imprinted genes tend to cluster. Meanwhile, CAP4 and COPG2 two further putatively imprinted genes in this region have been reported, but several lines of evidence