Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP GeneReportar como inadecuado




Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Collegium antropologicum, Vol.33 No.4 December 2009. -

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.

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



Autor: Danijela Petković Ramadža - ; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia Feodora Stipoljev -

Fuente: http://hrcak.srce.hr/



DESCARGAR PDF




Documentos relacionados