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Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

✍ Scribed by A. Taillandier; A.S. Lia-Baldini; M. Mouchard; B. Robin; F. Muller; B. Simon-Bouy; J.L. Serre; A. Bera-Louville; M. Bonduelle; J. Eckhardt; D. Gaillard; A.G. Myhre; S. Körtge-Jung; L. Larget-Piet; E. Malou; D. Sillence; I.K. Temple; G. Viot; E. Mornet

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
21 KB
Volume
18
Category
Article
ISSN
1059-7794

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✦ Synopsis

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.

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