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

Hum Mutat. 2003 Jul;22(1):105-6. doi: 10.1002/humu.9159.

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.

Publication types

  • Multicenter Study

MeSH terms

  • Alkaline Phosphatase / genetics*
  • Female
  • Humans
  • Hypophosphatasia / diagnosis
  • Hypophosphatasia / enzymology*
  • Hypophosphatasia / genetics*
  • Infant, Newborn
  • Male
  • Mutation*
  • Neonatal Screening
  • Pregnancy
  • Prenatal Diagnosis

Substances

  • Alkaline Phosphatase

Associated data

  • OMIM/146300
  • OMIM/241500
  • OMIM/241510