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

Alberto Plaja, Neus Castells, Anna M. Cueto-González, Miguel Del Campo, Teresa Vendrell, Elisabet Lloveras, Luis Izquierdo, Mar Borregan, Benjamín Rodríguez-Santiago, Anna Carrió, Rosa Miró, Eduardo Tizzano

Research output: Contribution to journalArticleResearchpeer-review

3 Citations (Scopus)

Abstract

© 2015 S. Karger AG, Basel. 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.
Original languageEnglish
Pages (from-to)181-186
JournalCytogenetic and Genome Research
Volume146
Issue number3
DOIs
Publication statusPublished - 1 Nov 2015

Keywords

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

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