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

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. 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: FENOTIPSKA VARIJABILNOST I MOGUĆE HRVATSKO PODRIJETLO c.1402G>A MUTACIJE TNSALP GENA ----- 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.

Item Type: Article
MeSH: Alkaline Phosphatase/deficiency ; Alkaline Phosphatase/genetics ; Croatia ; Fatal Outcome ; Female ; Humans ; Hypophosphatasia/genetics ; Hypophosphatasia/radiography ; Infant, Newborn ; Mutation, Missense
Departments: Katedra za pedijatriju
Katedra za radiologiju i opću kliničku onkologiju
Depositing User: Marijan Šember
Status: Published
Creators:
CreatorsEmail
Petković Ramadža, DanijelaUNSPECIFIED
Stipoljev, FeodoraUNSPECIFIED
Sarnavka, VladimirUNSPECIFIED
Begović, DavorUNSPECIFIED
Potočki, KristinaUNSPECIFIED
Fumić, KsenijaUNSPECIFIED
Mornet, EtienneUNSPECIFIED
Barić, IvoUNSPECIFIED
Date: December 2009
Date Deposited: 17 May 2010
Last Modified: 23 Sep 2011 16:11
Subjects: /
Related URLs:
    URI: http://medlib.mef.hr/id/eprint/768

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