Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 11 families affected by various forms of hypophosphatasia. Nineteen distinct mutations were found, 7 of which were previously reported. Eleven of the 12 new mutations were missense mutations (Y11C, A34V, R54H, R135H, N194D, G203V, E218G, D277Y, F310G, A382S, V406A), the last one (998-1G>T) was a mutation affecting acceptor splice site.
Taillandier
A
A
Centre d'Etudes de Biologie Prénatale - SESEP, Université de Versailles, Versailles, France.
Lia-Baldini
A S
AS
Mouchard
M
M
Robin
B
B
Muller
F
F
Simon-Bouy
B
B
Serre
J L
JL
Bera-Louville
A
A
Bonduelle
M
M
Eckhardt
J
J
Gaillard
D
D
Myhre
A G
AG
Körtge-Jung
S
S
Larget-Piet
L
L
Malou
E
E
Sillence
D
D
Temple
I K
IK
Viot
G
G
Mornet
E
E
D000328:Adult; D000469:Alkaline Phosphatase / Q000235:genetics* / Q000378:metabolism; D000483:Alleles; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007014:Hypophosphatasia / Q000201:enzymology* / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics
D022821:RNA Splice Sites; D000469:Alkaline Phosphatase