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Fifteen new mutations (‐195C>T, L‐12X, 298‐2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue‐nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia
Author(s) -
Taillandier A.,
Cozien E.,
Muller F.,
Merrien Y.,
Bonnin E.,
Fribourg C.,
SimonBouy B.,
Serre J.L.,
Bieth E.,
Brenner R.,
Cordier M.P.,
De Bie S.,
Fellmann F.,
Freisinger P.,
Hesse V.,
Hennekam R.C.M.,
Josifova D.,
KerzinStorrar L.,
Leporrier N.,
Zabot M.T.,
Mornet E.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200003)15:3<293::aid-humu11>3.0.co;2-q
Subject(s) - hypophosphatasia , missense mutation , nonsense mutation , alkaline phosphatase , biology , exon , microbiology and biotechnology , mutation , genetics , gene , biochemistry , enzyme
Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney‐type alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue‐nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 12 families affected by severe or mild hypophosphatasia. Twenty distinct mutations were found, 5 of which were previously reported. Nine of the 15 new mutations were missense mutations (T117N, A159T, R229S, A331T, H364R, D389G, R433H, N461I, and C472S). The others were 2 nonsense mutations (L‐12X and E274X), one single nucleotide deletion (1256delC), 2 mutations affecting splicing (298‐2A>G, 997+2T>A), and a mutation in the major transcription start site (‐195C>T). Hum Mutat 15:293, 2000. © 2000 Wiley‐Liss, Inc.