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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


Puni tekst: engleski pdf 79 Kb

str. 1255-1260

preuzimanja: 311

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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

https://hrcak.srce.hr/51511

Posjeta: 594 *