From the Medical Literature - August 2000

Record  1

  Williams-Beuren syndrome 35 years after the diagnosis in one of the first
Beuren patients [letter]
  Pankau  R;  Partsch CJ; Gosch A; Siebert R; Schneider M; Schneppenheim R;
Winter M; Wessel A
  American  journal  of medical genetics (UNITED STATES)   Apr 10 2000,  91
(4) p322-4,  ISSN 0148-7299   Journal Code: 3L4
  Languages: ENGLISH
  Document type: LETTER

Record  2

  WBSCR14,  a putative transcription factor gene deleted in Williams-Beuren
syndrome:  complete  characterisation  of  the  human  gene  and  the mouse
ortholog.
  de Luis O; Valero MC; Jurado LA
  Servicio de Genetica, Hospital Universitario La Paz, Madrid, Spain.
  European journal of human genetics (ENGLAND)   Mar 2000,  8 (3) p215-22,
ISSN 1018-4813   Journal Code: B4K
  Languages: ENGLISH
  Document type: JOURNAL ARTICLE

  Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder affecting
several systems caused by a heterozygous deletion in the chromosomal region
7q11.23.  A common interval that includes up to 17 genes reported so far is
deleted  in  the  great majority of patients. Elastin haploinsufficiency is
responsible  for the cardiovascular features, but the specific contribution
of  other deleted genes to the WBS phenotype remains unknown. We have fully
characterised  a gene commonly deleted in WBS, WBSCR14, previously reported
in  a  truncated form as WS-bHLH. The WBSCR14 cDNA encodes an 852amino acid
protein  with a basic helix-loop-helix-leucine-zipper motif (bHLHZip) and a
bipartite  nuclear  localisation  signal (BNLS), suggesting a function as a
transcription   factor.   WBSCR14   is  expressed  as  a  4.2kb  transcript
predominantly  in adult liver and at late stages of foetal development. The
WBSCR14  locus  encompasses  33  kb  of  genomic  DNA  with  17  exons. Two
intragenic  polymorphic  dinucleotide repeats have been identified and used
to  verify  hemizygosity  in  WBS  patients.  We have also cloned the mouse
ortholog  and  mapped  its  locus  to  mouse  chromosome  5, in a region of
conserved synteny with human 7q11.23. Given that other bHLHZip proteins are
dosage  sensitive  and  based  on  the  putative  function  of WBSCR14 as a
transcription  factor, hemizygosity at this locus could be involved in some
features of WBS.

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