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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
Authors: Jaeken, Jacques ×
Goemans, N
Fryns, Jean-Pierre
Fran├žois, Isabelle
de Zegher, Francis #
Issue Date: Jan-1996
Series Title: Journal of Inherited Metabolic Disease vol:19 issue:3 pages:275-7
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.
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Clinical Genetics Section (-)
Centre for Food and Microbial Technology
Section Newborn (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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