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Title: Positive maternal serum triple test screening in severe early onset hypophosphatasia
Authors: Witters, Ingrid ×
Moerman, Philippe
Mornet, Etienne
Fryns, Jean-Pierre #
Issue Date: Aug-2004
Series Title: Prenatal Diagnosis vol:24 issue:7 pages:494-7
Abstract: OBJECTIVES: Hypophosphatasia is a rare heritable inborn error of metabolism characterized by a liver/bone/kidney alkaline phosphatase defective bone mineralization due to mutations in the tissue-non-specific alkaline phosphatase (TNS-ALP) gene. To date 128 mutations are described in the TNS-ALP gene located on the short arm of chromosome 1. The clinical presentation of hypophosphatasia is variable ranging from early onset lethal short-limb dwarfism to a late-onset presentation with fractures in childhood or adulthood. METHODS: We report a pregnancy with a positive maternal serum triple test screening and a post-mortem pathological and molecular diagnosis of perinatal lethal hypophosphatasia. RESULTS: Two heterogeneous missense mutations in the TNS-ALP gene were found, of which one was not previously described. CONCLUSION: This case report adds to the list of fetal malformations found after positive maternal serum triple test screening and reports a previously undescribed mutation in the TNS-ALP gene responsible for hypophosphatasia.
URI: 
ISSN: 0197-3851
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Cell & Tissue Research
Clinical Genetics
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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