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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Demczuk S, Aurias A (1995) DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.Ann Génét 38: 59–76.
Frippiat J-P, Williams SC, Tomlinson IM, et al (1995) Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2.Hum Mol Genet 4: 983–991.
Herzog R, Lutz S, Blin N, Marasa JC, Blinder MA, Tollefsen DM (1991) Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11.Biochemistry 30: 1350–1357.
McDonald-McGinn DM, Driscoll DA, Bason L, et al (1995) Autosomal dominant ‘Opitz’ GBBB syndrome due to a 22q11.2 deletion.Am J Med Genet 59: 103–113.
Phang JM, Yeh GC, Scriver CR (1995) Disorders of proline and hydroxyproline metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1125–1146.
Scambler PJ, Kelly D, Lindsay E, et al (1992) Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.Lancet 339: 1138–1139.
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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