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Hum Mutat. 2003 Jul;22(1):105-6.

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.

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Centre d'Etudes de Biologie Prénatal-SESEP, Université de Versailles-Saint Quentin en Yvelines, Versailles, France.


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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