title: Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
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 here the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 11 families affected by various forms of hypophosphatasia. Nineteen distinct mutations were found, 7 of which were previously reported. Eleven of the 12 new mutations were missense mutations (Y11C, A34V, R54H, R135H, N194D, G203V, E218G, D277Y, F310G, A382S, V406A), the last one (998-1G>T) was a mutation affecting acceptor splice site.
authors: Centre d'Etudes de Biologie Prénatale - SESEP, Université de Versailles, Versailles, France.
authors: A
authors: A
authors: Taillandier
authors: A S
authors: AS
authors: Lia-Baldini
authors: M
authors: M
authors: Mouchard
authors: B
authors: B
authors: Robin
authors: F
authors: F
authors: Muller
authors: B
authors: B
authors: Simon-Bouy
authors: J L
authors: JL
authors: Serre
authors: A
authors: A
authors: Bera-Louville
authors: M
authors: M
authors: Bonduelle
authors: J
authors: J
authors: Eckhardt
authors: D
authors: D
authors: Gaillard
authors: A G
authors: AG
authors: Myhre
authors: S
authors: S
authors: Körtge-Jung
authors: L
authors: L
authors: Larget-Piet
authors: E
authors: E
authors: Malou
authors: D
authors: D
authors: Sillence
authors: I K
authors: IK
authors: Temple
authors: G
authors: G
authors: Viot
authors: E
authors: E
authors: Mornet
mesh_terms: D000328:Adult; D000469:Alkaline Phosphatase / Q000235:genetics* / Q000378:metabolism; D000483:Alleles; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007014:Hypophosphatasia / Q000201:enzymology* / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: D022821:RNA Splice Sites; D000469:Alkaline Phosphatase