Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia
✍ Scribed by A. Taillandier; E. Cozien; F. Muller; Y. Merrien; E. Bonnin; C. Fribourg; B. Simon-Bouy; J.L. Serre; E. Bieth; R. Brenner; M.P. Cordier; S. De Bie; F. Fellmann; P. Freisinger; V. Hesse; R.C.M. Hennekam; D. Josifova; L. Kerzin-Storrar; N. Leporrier; M.T. Zabot; E. Mornet
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 18 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney -type alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 12 families affected by severe or mild hypophosphatasia. Twenty distinct mutations were found, 5 of which were previously reported. Nine of the 15 new mutations were missense mutations (T117N, A159T, R229S, A331T, H364R, D389G, R433H, N461I, and C472S). The others were 2 nonsense mutations (L-12X and E274X), one single nucleotide deletion (1256delC), 2 mutations affecting splicing (298-2A>G, 997+2T>A), and a mutation in the major transcription start site (-195C>T).