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

Spentchian, M; Merrien, Y; Herasse, M; Dobbie, Z; Gläser, D; Holder, S; Ivarsson, Sten LU ; Kostiner, D; Mansour, S and Norman, A, et al. (2003) In Human Mutation 22(1). p.105-106
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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Contribution to journal
publication status
published
subject
in
Human Mutation
volume
22
issue
1
pages
105 - 106
publisher
John Wiley & Sons
external identifiers
  • scopus:17144444743
ISSN
1059-7794
DOI
10.1002/humu.9159
language
English
LU publication?
yes
id
e53da016-a9f9-40f1-81aa-a2197bee80e9 (old id 1127735)
date added to LUP
2008-06-05 13:08:22
date last changed
2018-01-07 05:28:35
@article{e53da016-a9f9-40f1-81aa-a2197bee80e9,
  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.},
  author       = {Spentchian, M and Merrien, Y and Herasse, M and Dobbie, Z and Gläser, D and Holder, S and Ivarsson, Sten and Kostiner, D and Mansour, S and Norman, A and Roth, J and Stipolev, F and Taillemite, JL and Van Der Smagt, JJ and Serre, JL and Simon-Bouy, B and Taillandier, A and Mornet, E},
  issn         = {1059-7794},
  language     = {eng},
  number       = {1},
  pages        = {105--106},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene},
  url          = {http://dx.doi.org/10.1002/humu.9159},
  volume       = {22},
  year         = {2003},
}