Izvorni znanstveni članak
Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene
Danijela Petković Ramadža
; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
Feodora Stipoljev
; Cytogenetics Laboratory, General Hospital »Sveti Duh«, Zagreb, Croatia
Vladimir Sarnavka
; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
Davor Begović
; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
Kristina Potočki
; Department of Radiology, University Hospital Center Zagreb, Zagreb, Croatia
Ksenija Fumić
; Clinical Institute of Laboratory Diagnosis, University Hospital Center Zagreb, Zagreb, Croatia
Etienne Mornet
; Laboratoire SESEP, Batiment Fermat, University of Versailles Saint Quentin, Versailles, France
Ivo Barić
; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
Sažetak
Hypophosphatasia is a metabolic bone disease characterized by bone and teeth hypomineralization due to defective function of tissue-nonspecific alkaline phosphatase (TNSALP). The disorder is caused by various mutations in the TNSALP gene localized on short arm of chromosome 1. Infantile hypophosphatasia is a severe form of the disease inherited as an autosomal recessive trait which presents before age of six months and often has fatal outcome. We report a patient with typical clinical course for infantile hypophosphatasia who was homozygous for the c.1402G>A mutation. The same mutation has been previously associated with a more severe perinatal form also in a Croatian family what indicates a possible common ancestral origin and phenotypic variability potential of c.1402G>A mutation of TNSALP gene.
Ključne riječi
hypophosphatasia; alkaline phosphatase; phenotypic variability; infantile form; gene mutations
Hrčak ID:
51511
URI
Datum izdavanja:
1.12.2009.
Posjeta: 1.009 *