文章基本信息

标题：Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene
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作者：Petković Ramadža, Danijela ; Stipoljev, Feodora ; Sarnavka, Vladimir 等
期刊名称：Collegium Antropologicum
印刷版ISSN：0350-6134
出版年度：2009
卷号：33
期号：4
页码：1255-1260
出版社：Hrvatsko antropološko društvo
摘要：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.
关键词：hypophosphatasia; alkaline phosphatase; phenotypic variability; infantile form; gene mutations