Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Spentchian M,
Merrien Y,
Herasse M,
Dobbie Z,
Gläser D,
Holder SE,
Ivarsson SA,
Kostiner D,
Mansour S,
Norman A,
Roth J,
Stipoljev F,
Taillemite JL,
van der Smagt JJ,
Serre JL,
Simon-Bouy B,
Taillandier A,
Mornet E.
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. Copyright 2003 Wiley-Liss, Inc.
PMID: 12815606 [PubMed - indexed for MEDLINE]