title: Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
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.
authors.affiliation: Centre d'Etudes de Biologie Prénatal-SESEP, Université de Versailles-Saint Quentin en Yvelines, Versailles, France.
authors.forename: M
authors.initials: M
authors.lastname: Spentchian
authors.forename: Y
authors.initials: Y
authors.lastname: Merrien
authors.forename: M
authors.initials: M
authors.lastname: Herasse
authors.forename: Z
authors.initials: Z
authors.lastname: Dobbie
authors.forename: D
authors.initials: D
authors.lastname: Gläser
authors.forename: S E
authors.initials: SE
authors.lastname: Holder
authors.forename: S-A
authors.initials: SA
authors.lastname: Ivarsson
authors.forename: D
authors.initials: D
authors.lastname: Kostiner
authors.forename: S
authors.initials: S
authors.lastname: Mansour
authors.forename: A
authors.initials: A
authors.lastname: Norman
authors.forename: J
authors.initials: J
authors.lastname: Roth
authors.forename: F
authors.initials: F
authors.lastname: Stipoljev
authors.forename: J-L
authors.initials: JL
authors.lastname: Taillemite
authors.forename: J J
authors.initials: JJ
authors.lastname: van der Smagt
authors.forename: J-L
authors.initials: JL
authors.lastname: Serre
authors.forename: B
authors.initials: B
authors.lastname: Simon-Bouy
authors.forename: A
authors.initials: A
authors.lastname: Taillandier
authors.forename: E
authors.initials: E
authors.lastname: Mornet
mesh_terms: D000469:Alkaline Phosphatase / Q000235:genetics*; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D000469:Alkaline Phosphatase