2003•Human MutationOpen access
Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene
Myrtille Spentchian, Y Merrien, Muriel Hérasse, Zuzana Dobbie, Dieter Gläser, Susan Holder, SA Ivarsson, Dana Kostiner, Sahar Mansour, Andrew Norman, Julien G. Roth, Fedora Stipoljev, J-L. Taillemite, Jasper J. van der Smagt, JL Serre, Brigitte Simon‐Bouy, A. Taillandier, Étienne Mornet
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Abstract
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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