Raben N, Lee E, Lee L, Hirschhorn R, Plotz P H
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Hum Mutat. 1999;13(1):83-4. doi: 10.1002/(sici)1098-1004(1999)13:1<83::aid-humu13>3.0.co;2-2.
The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid alpha-glucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. We have recently demonstrated that African American patients share a common nonsense R854X mutation in exon 18 (Becker et al., 1998). Two other mutations, D645E and M519V, have been identified in individual African American patients (Hermans et al., 1993a; Huie et al., 1994a). We describe here three novel mutations in this population group: a missense W481R in exon 10, a deletion of a T1441 in exon 10, and a splicing defect at the 5' donor site of intron 8 (IVS g+la) . The splicing defect is shared by two unrelated patients and it is linked to intragenic polymorphic sites identical to those found in patients bearing the common R854X mutation.
糖原贮积病II型的婴儿型（溶酶体酶酸性α-葡萄糖苷酶缺乏症，庞贝病）是一种严重且必然致命的疾病，其特征为快速进展的全身性肌张力减退、肝肿大和心脏肥大。我们最近证实，非裔美国患者在第18外显子中存在一个常见的无义R854X突变（贝克尔等人，1998年）。在个别非裔美国患者中还发现了另外两个突变，D645E和M519V（赫尔曼斯等人，1993年a；休伊等人，1994年a）。我们在此描述该人群中的三个新突变：第10外显子中的错义突变W481R、第10外显子中T1441的缺失以及第8内含子5'供体位点（IVS g+1a）的剪接缺陷。两名无关患者存在相同的剪接缺陷，且该缺陷与携带常见R854X突变的患者中发现的基因内多态性位点相关。
