title: 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. Mutations in brief no. 217. Online.
abstract: 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).
authors: Centre d'Etudes de Biologie Prénatale-SESEP, Université de Versailles, France.
authors: A
authors: A
authors: Taillandier
authors: L
authors: L
authors: Zurutuza
authors: F
authors: F
authors: Muller
authors: B
authors: B
authors: Simon-Bouy
authors: J L
authors: JL
authors: Serre
authors: L
authors: L
authors: Bird
authors: R
authors: R
authors: Brenner
authors: O
authors: O
authors: Boute
authors: J
authors: J
authors: Cousin
authors: D
authors: D
authors: Gaillard
authors: P H
authors: PH
authors: Heidemann
authors: B
authors: B
authors: Steinmann
authors: M
authors: M
authors: Wallot
authors: E
authors: E
authors: Mornet
mesh_terms: D000469:Alkaline Phosphatase / Q000172:deficiency* / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D006801:Humans; D007014:Hypophosphatasia / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics
chemical_list: D000469:Alkaline Phosphatase