title: A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
abstract: Copy number variants (CNVs) of the Williams-Beuren syndrome (WBS) 7q11.23 region are responsible for neurodevelopmental disorders with multisystem involvement and variable expressivity. We found 2 patients with a deletion and 1 patient with a duplication in this region sharing a common breakpoint located between the LIMK1 and EIF4H(WBSCR1) genes. One patient had a WBS phenotype, although testing with a commercially available FISH assay was negative for the deletion. A further test using array CGH showed an atypical WBS region deletion. The second patient showed global developmental delay, speech delay and poor motor skills with a deletion outside the WBS region. The third patient had manifestations compatible with an autism spectrum disorder showing a duplication in the WBS region. Our findings point to the existence of a previously unrecognized recurrent breakpoint responsible for rearrangements in the WBS region. Given that most commercial FISH assays include probes flanking this novel breakpoint, further testing with array CGH should be performed in patients with WBS and negative FISH results.
authors.affiliation: x00C0;rea de Genx00E8;tica Clx00ED;nica i Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Plaja
authors.forename: Neus
authors.initials: N
authors.lastname: Castells
authors.forename: Anna M
authors.initials: AM
authors.lastname: Cueto-González
authors.forename: Miguel
authors.initials: M
authors.lastname: del Campo
authors.forename: Teresa
authors.initials: T
authors.lastname: Vendrell
authors.forename: Elisabet
authors.initials: E
authors.lastname: Lloveras
authors.forename: Luis
authors.initials: L
authors.lastname: Izquierdo
authors.forename: Mar
authors.initials: M
authors.lastname: Borregan
authors.forename: Benjamín
authors.initials: B
authors.lastname: Rodríguez-Santiago
authors.forename: Anna
authors.initials: A
authors.lastname: Carrió
authors.forename: Rosa
authors.initials: R
authors.lastname: Miró
authors.forename: Eduardo
authors.initials: E
authors.lastname: Tizzano
mesh_terms: D002675:Child, Preschool; D043283:Chromosome Fragile Sites; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D008297:Male; D018980:Williams Syndrome / Q000235:genetics*