Expression atlas of the mouse orthologues of the Williams-Beuren syndrome critical region genes

The Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder characterized by mental retardation with unique cognitive and personality profile, distinctive facial features, supravalvular aortic stenosis, short stature, connective tissue anomalies, hypertension, infantile hypercalcemia, dental and kidney abnormalities and premature aging of the skin. Its incidence is estimated at 1/15,000 and sporadic de novo inheritance is usual. Molecular basis of the syndrome is a heterozygous ~1.5 Mb microdeletion or inversion at chromosome band 7q11.23. While our understanding of the etiology of WBS has improved greatly, we are still ignorant as to the molecular basis of all except the cardiovascular phenotype. To define where the 31 WBS critical region genes exert their function and identify their possible role in the WBS phenotypes we performed a systematic analysis of the expression profile of all their murine orthologues. To obtain an high resolution expression pattern several complementary methods were combined: RT-PCR on a mouse cDNA panel of 12 adult tissues and 4 developmental stages; wholemount in situ of E9.5 and E10.5 embryos, section in situ of E14.5 embryos, brain section in situ of E15.5 embryos, P7 and P56 mouse. These stages correspond to mid and late embryonic and fetal human periods, when the major organs and body regions are organized, while the brain sections allow to correlate expression with neuroanatomical changes described in WBS patients.The topographical catalogue of expression of the murine orthologues of WBS genes will be instrumental to the understanding of the pathogenesis of this contiguous gene syndrome. The entire data set will be comprehensively documented on a freely accessible web page, which will lists the WBS genes, their murine orthologs and the probes used for ISH and displays images as well as annotation tables.