Naslov
Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402G>A mutation of TNSALP gene

Autori
Petković Ramadža, Danijela ; Stipoljev, Feodora ; Sarnavka, Vladimir ; Begović, Davor ; Potočki, Kristina ; Fumić, Ksenija ; Mornet, Etienne ; Barić, Ivo.

Izvornik
Collegium antropologicum (0350-6134) 33 (2009), 4; 1255-1260

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
hypophosphatasia; alkaline phosphatase; infantile form; phenotypic variability; gene mutations

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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA