法布里病：35个家系中的20种新的α - 半乳糖苷酶A基因突变
Fabry disease: 20 novel GLA mutations in 35 families.
作者信息
Blaydon D, Hill J, Winchester B
机构信息
Biochemistry, Endocrinology and Metabolism and Clinical and Molecular Genetics Units, Institute of Child Health at Great Ormond Street Hospital, University College London, 30 Guilford Street, London WC1N 1EH, UK.
出版信息
Hum Mutat. 2001 Nov;18(5):459. doi: 10.1002/humu.1219.
Thirty two mutations have been found in 35 unrelated patients of European origin with Fabry disease, including 8 females. Twenty of the mutations are novel and comprise of 13 missense: H46Y, W47G, R49P, C94S, F113S, G258R, P259R, Q279H, Q280H, R363H, A377D, P409A, P409T; 1 nonsense: L294X; 5 small deletions: 154delT, 520delT, 909-918del10, 1152-1153delCA, 1235-1236delCT and 1 splice site mutation: IVS5+2t-->c. The remaining 12 mutations have all been reported previously. All patients with deletions had the classic form of the disease but it was not possible to predict the phenotype from the missense mutations.
在35名欧洲血统的法布里病非亲缘患者（包括8名女性）中发现了32种突变。其中20种突变为新发现的突变，包括13种错义突变：H46Y、W47G、R49P、C94S、F113S、G258R、P259R、Q279H、Q280H、R363H、A377D、P409A、P409T；1种无义突变：L294X；5种小缺失：154delT、520delT、909 - 918del10、1152 - 1153delCA、1235 - 1236delCT以及1种剪接位点突变：IVS5+2t-->c。其余12种突变此前均有报道。所有缺失突变的患者都患有典型形式的疾病，但无法根据错义突变预测表型。
Zotero 插件