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Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene

✍ Scribed by M. Spentchian; Y. Merrien; M. Herasse; Z. Dobbie; D. Gläser; S. E. Holder; S-A. Ivarsson; D. Kostiner; S. Mansour; A. Norman; J. Roth; F. Stipoljev; J-L. Taillemite; J. J. van der Smagt; J-L. Serre; B. Simon-Bouy; A. Taillandier; E. Mornet

Book ID
102264085
Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
31 KB
Volume
22
Category
Article
ISSN
1059-7794

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✦ Synopsis

Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia. Sixteen distinct mutations were found, fifteen of them not previously reported: M45V, G46R, 388-391delGTAA, 389delT, T131I, G145S, D172E, 662delG, G203A, R255L, 876-881delAGGGGA, 962delG, E294K, E435K, and A451T. This confirms that severe hypophosphatasia is due to a large spectrum of mutations in Caucasian populations.

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