A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region

作者：Plaja Alberto^*; Castells Neus; Cueto Gonzalez Anna M; del Campo Miguel; Vendrell Teresa; Lloveras Elisabet; Izquierdo Luis; Borregan Mar; Rodriguez Santiago Benjamin; Carrio Anna; Miro Rosa; Tizzano Eduardo

来源：Cytogenetic and Genome Research, 2015, 146(3): 181-186.

DOI：10.1159/000439463

• Array CGH
• Atypical deletion
• Deletion 7q11.23
• FISH
• Williams-Beuren syndrome

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.

• 出版日期2015