Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene.
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.
Petković Ramadza
Danijela
D
Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia. dramadza@gmail.com
Stipoljev
Feodora
F
Sarnavka
Vladimir
V
Begović
Davor
D
Potocki
Kristina
K
Fumić
Ksenija
K
Mornet
Etienne
E
Barić
Ivo
I
D000469:Alkaline Phosphatase / Q000172:deficiency / Q000235:genetics*; D017523:Croatia; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000000981:diagnostic imaging / Q000235:genetics*; D007231:Infant, Newborn; D020125:Mutation, Missense; D011859:Radiography
D000469:Alkaline Phosphatase