低磷酸酯酶症患者组织非特异性碱性磷酸酶（TNSALP）基因中的15种新突变（-195C>T、L-12X、298-2A>G、T117N、A159T、R229S、997+2T>A、E274X、A331T、H364R、D389G、1256delC、R433H、N461I、C472S）
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.
作者信息
Taillandier A, Cozien E, Muller F, Merrien Y, Bonnin E, Fribourg C, Simon-Bouy B, Serre J L, Bieth E, Brenner R, Cordier M P, De Bie S, Fellmann F, Freisinger P, Hesse V, Hennekam R C, Josifova D, Kerzin-Storrar L, Leporrier N, Zabot M T, Mornet E
机构信息
Centre d'Etudes de Biologie Prénatale-SESEP, Université de Versailles, Versailles, France.
出版信息
Hum Mutat. 2000 Mar;15(3):293. doi: 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU11>3.0.CO;2-Q.
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.
低磷酸酯酶症是一种罕见的遗传性疾病，其特征为骨矿化缺陷以及血清和肝/骨/肾型碱性磷酸酶（L/B/K ALP）活性缺乏。我们报告了一系列12个受严重或轻度低磷酸酯酶症影响的家庭中组织非特异性碱性磷酸酶（TNSALP）基因突变的特征。共发现20种不同的突变，其中5种先前已有报道。15种新突变中有9种为错义突变（T117N、A159T、R229S、A331T、H364R、D389G、R433H、N461I和C472S）。其他突变包括2种无义突变（L-12X和E274X）、1种单核苷酸缺失（1256delC）、2种影响剪接的突变（298-2A>G、997+2T>A）以及一个主要转录起始位点的突变（-195C>T）。《人类突变》15:293，2000年。
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