Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
Taillandier A,
Lia-Baldini AS,
Mouchard M,
Robin B,
Muller F,
Simon-Bouy B,
Serre JL,
Bera-Louville A,
Bonduelle M,
Eckhardt J,
Gaillard D,
Myhre AG,
Körtge-Jung S,
Larget-Piet L,
Malou E,
Sillence D,
Temple IK,
Viot G,
Mornet E.
Centre d'Etudes de Biologie Prénatale - SESEP, Université de Versailles, Versailles, France.
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. Copyright 2001 Wiley-Liss, Inc.
PMID: 11438998 [PubMed - indexed for MEDLINE]