Human Genetics

, Volume 110, Issue 5, pp 429–438 | Cite as

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

  • Giuseppe Merla
  • Catherine Ucla
  • Michel Guipponi
  • Alexandre Reymond
Original Investigation

Abstract.

Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple genes 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-acetylgalactosaminyltransferase, 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.

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Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Giuseppe Merla
    • 1
  • Catherine Ucla
    • 2
  • Michel Guipponi
    • 2
  • Alexandre Reymond
    • 2
  1. 1.Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, ItalyItaly
  2. 2.Division of Medical Genetics, University of Geneva Medical School, CMU, 1 Rue Michel Servet, 1211 Geneva 4, SwitzerlandSwitzerland

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