Identification of additional transcripts in the Williams-Beuren syndrome critical region

Giuseppe Merla, Catherine Ucla, Michel Guipponi, Alexandre Reymond

Research output: Contribution to journalArticlepeer-review


Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple gens at 7q11.23. Here, we report the characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetyl-galactosaminyltransferase, a DNAJ-like chaperone, NOL1/ NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies. Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features.

Original languageEnglish
Pages (from-to)429-438
Number of pages10
JournalHuman Genetics
Issue number5
Publication statusPublished - May 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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