title: Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene.
abstract: 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.
authors.affiliation: Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia. dramadza@gmail.com
authors.forename: Danijela
authors.initials: D
authors.lastname: Petković Ramadza
authors.forename: Feodora
authors.initials: F
authors.lastname: Stipoljev
authors.forename: Vladimir
authors.initials: V
authors.lastname: Sarnavka
authors.forename: Davor
authors.initials: D
authors.lastname: Begović
authors.forename: Kristina
authors.initials: K
authors.lastname: Potocki
authors.forename: Ksenija
authors.initials: K
authors.lastname: Fumić
authors.forename: Etienne
authors.initials: E
authors.lastname: Mornet
authors.forename: Ivo
authors.initials: I
authors.lastname: Barić
mesh_terms: D000469:Alkaline Phosphatase / Q000172:deficiency / Q000235:genetics*; D017523:Croatia; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000000981:diagnostic imaging / Q000235:genetics*; D007231:Infant, Newborn; D020125:Mutation, Missense; D011859:Radiography
chemical_list: D000469:Alkaline Phosphatase