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J Med Genet 1999;36:221-224 doi:10.1136/jmg.36.3.221
  • Original article

A Hirschsprung disease locus at 22q11?

  1. W S Kerstjens-Frederiksea,
  2. R M W Hofstraa,
  3. A J van Essena,
  4. J H C Meijersb,
  5. C H C M Buysa
  1. aDepartment of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, 9713 AW Groningen, The Netherlands, bDepartment of Cell Biology, Erasmus University, Rotterdam, The Netherlands
  1. Dr Hofstra.
  • Received 4 June 1997
  • Revised 17 July 1998

Abstract

We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment Hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an interstitial deletion in chromosome band 22q11.2 coinciding with the deletions found in DiGeorge syndrome and velocardiofacial syndrome. Mutation scanning of RET, GDNF, EDNRB, and EDN3, genes associated with Hirschsprung disease, showed no aberrations. Since we know of two more patients with velocardiofacial syndrome and HSCR, we hypothesise that a gene responsible for proper development of the enteric nervous system may be included in the 22q11.2 region.

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