AI Article Synopsis
- Hypophosphatasia is a metabolic bone disease caused by mutations in the TNSALP gene, leading to poor mineralization of bones and teeth.
- Infantile hypophosphatasia is a severe variant that typically appears before six months of age and often results in fatalities, inherited in an autosomal recessive manner.
- A case study reports a patient with the c.1402G>A mutation, linking it to both infantile and perinatal forms of the disease, suggesting a potential common ancestry and variability in symptoms.
Article 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.
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