Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia.

Taillandier A., Zurutuza L., Muller F., Simon-Bouy B., Serre J.L., Bird L., Brenner R., Boute O., Cousin J., Gaillard D., Heidemann P.H., Steinmann B., Wallot M., Mornet E.

Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/ bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 9 families affected by severe hypophosphatasia. Fourteen distinct mutations were found, 3 of which were previously reported in the North American or Japanese populations. Seven of the 11 new mutations were missense mutations (M45L, R119H, G145V, C184Y and H154Y, D289V, E459K), the four others were 2 single nucleotide deletions (544delG and 1172delC), a mutation affecting donor splice site (862 + 5A) and a nonsense mutation (R411X).

Hum. Mutat. 13:171-172(1999) [PubMed] [Europe PMC]

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health