Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene [Hipofosfatazija: fenotipska varijabilnost i moguće hrvatsko podrijetlo c.1402g>a mutacije TNSLAP gena]

Petković Ramadža, Danijela and Stipoljev, Feodora and Sarnavka, Vladimir and Begović, Davor and Potočki, Kristina and Fumić, Ksenija and Mornet, Etienne and Barić, Ivo (2009) Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene [Hipofosfatazija: fenotipska varijabilnost i moguće hrvatsko podrijetlo c.1402g>a mutacije TNSLAP gena]. Collegium Antropologicum, 33 (4). pp. 1255-8. ISSN 0350-6134

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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.

Abstract in Croatian

Hipofosfatazija je nasljedna metabolička bolest kostiju koja nastaje zbog nedostatne funkcije tkivno nespecifične alkaline fosfataze (TNSALP), a očituje se smanjenom mineralizacijom kostiju i zubi. Bolest nastaje zbog mutacija TNSALP gena koji se nalazi na kratkom kraku 1. kromosoma. Infantilni oblik hipofosfatazije se nasljeđuje autosomno recesivno, a klinički se bolest očituje unutar prvih šest mjeseci života i nerijetko ima fatalan ishod. Prikazujemo žensko dojenče oboljelo od infantilne hipofosfatazije s kliničkom slikom karakterističnom za ovaj oblik bolesti, koje je bilo homozigot za c.1402G>A mutaciju TNSALP gena. Ista mutacija je ranije opisana u fetusa koji je također bio hrvatskog porijekla, ali je imao teži, perinatalni oblik bolesti. U članku se raspravlja o mogućem zajedničkom porijeklu i fenotipskoj varijabilnosti mutacije c.1402G>A gena TNSALP.

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