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Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene

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Journal of Inherited Metabolic Disease

Summary

Increased proline levels were found in plasma of a girl with slight psychomotor retardation, epilepsy, obesity, scoliosis, hypocalcaemia, variable lymphocytopenia and facial dysmorphy suggestive of CATCH 22 syndrome. Fluorescencein situ hybridization indicated the presence of a submicroscopic 22q11 deletion, confirming this diagnosis. Further investigation showed evidence that the patient was heterozygous for heparin cofactor II deficiency and for hyperprolinaemia type I, a proline catabolic disorder due to proline oxidase deficiency. This association extends the CATCH 22 syndrome and suggests that expression of the proline oxidase gene depends on the chromosome 22q11 region.

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Authors and Affiliations

  1. Department of Human Genetics, University of Leuven, Belgium

    J. -P. Fryns

  2. Department of Pediatrics, University Hospital Gasthuisberg, 3000, Leuven, Belgium

    J. Jaeken, N. Goemans, I. François & F. de Zegher

Authors
  1. J. Jaeken
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  2. N. Goemans
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  3. J. -P. Fryns
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  4. I. François
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  5. F. de Zegher
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Jaeken, J., Goemans, N., Fryns, J.P. et al. Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. J Inherit Metab Dis 19, 275–277 (1996). https://doi.org/10.1007/BF01799254

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  • DOI: https://doi.org/10.1007/BF01799254

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