Tupler R, Barbierato L, Memmi M, Sewry C A, De Grandis D, Maraschio P, Tiepolo L, Ferlini A
Biologia Generale e Genetica Medica, University of Pavia, Italy.
J Med Genet. 1998 Sep;35(9):778-83. doi: 10.1136/jmg.35.9.778.
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive hereditary neuromuscular disorder, transmitted in an autosomal dominant fashion. Its clinical expression is highly variable, ranging from almost asymptomatic subjects to wheelchair dependent patients. The molecular defect has been linked to chromosome 4q35 markers and has been related to deletions of tandemly repeated sequences located in the subtelomeric region detected by probe p13E-11 (D4F104S1). We describe a pair of monozygotic male twins affected by FSHD, carrying an identical de novo p13E-11 EcoRI fragment of paternal origin and showing great variability in the clinical expression of the disease, one being almost asymptomatic and the other severely affected. Their medical history was the same, with the exception of an anti-rabies vaccination performed at the age of 5 in the more severely affected twin. We hypothesise that the vaccination might have triggered an inflammatory immune reaction contributing to the more severe phenotype.
面肩肱型肌营养不良症（FSHD）是一种以常染色体显性方式遗传的进行性遗传性神经肌肉疾病。其临床表现高度可变，从几乎无症状的个体到依赖轮椅的患者不等。分子缺陷与4号染色体q35标记有关，并且与通过探针p13E - 11（D4F104S1）检测到的位于亚端粒区域的串联重复序列缺失有关。我们描述了一对受FSHD影响的同卵双胞胎男性，他们携带相同的源自父亲的新生p13E - 11 EcoRI片段，并且在该疾病的临床表型上表现出极大差异，其中一个几乎无症状，另一个则受到严重影响。他们的病史相同，只是受影响更严重的双胞胎在5岁时接种过抗狂犬病疫苗。我们推测该疫苗接种可能引发了炎症免疫反应，导致了更严重的表型。
