1. ¹Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
2. ²PhD Program, Department of Biomedical Sciences, University of Foggia, Foggia, Italy
3. ³Telethon Institute of Genetics and Medicine, Naples, Italy
4. ⁴Wellcome Trust Sanger Institute, Cambridge, UK
5. ⁵Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland

Correspondence: Dr G Merla, Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, Poliambulatorio Giovanni Paolo II, I-71013 San Giovanni Rotondo (FG), Italy. Tel: +39 088 241 6350; Fax: +39 088 241 1616; E-mail: g.merla@operapadrepio.it; Professor A Reymond, Center for Integrative Genomics, Genopode building, University of Lausanne, CH-1015 Lausanne, Switzerland. Tel: +41 21 692 3960; Fax: +41 21 692 3965; E-mail: alexandre.reymond@unil.ch

Received 23 October 2007; Revised 22 February 2008; Accepted 28 February 2008; Published online 9 April 2008.

Abstract

Williams–Beuren syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.