title: 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.
abstract: 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. Fluorescence in 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.
authors.affiliation: Department of Pediatrics, University of Leuven, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: N
authors.initials: N
authors.lastname: Goemans
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: I
authors.initials: I
authors.lastname: François
authors.forename: F
authors.initials: F
authors.lastname: de Zegher
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002892:Chromosomes, Human, Pair 22; D005260:Female; D017353:Gene Deletion; D015844:Heparin Cofactor II / Q000172:deficiency*; D006801:Humans; D011392:Proline / Q000097:blood*; D011394:Proline Oxidase / Q000235:genetics*; D013577:Syndrome
chemical_list: D015844:Heparin Cofactor II; D011392:Proline; D011394:Proline Oxidase