Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample
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DOI：
10.1111/j.1399-0004.2009.01158.x
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发表时间：
2009-06-01
影响因子：
3.5
通讯作者：
Trevisan, C. P.
中科院分区：
文献类型：
--
作者：
Mostacciuolo, M. L.;Pastorello, E.;Trevisan, C. P.
Mostacciuolo ML，Pastorello E，Vazza G，Miorin M，Angelini C，Tomelleri G，Galluzzi G，Trevisan CP.面肩肱型肌营养不良症：意大利东北部人群样本的流行病学和分子研究。临床遗传学2009：75：550-555。(C)Blackwell Munksgaard，2009面肩肱型肌营养不良症（FSHD）是一种与染色体4 q35部分缺失相关的常染色体显性遗传疾病。关于其流行病学的相关研究报道很少，基本上是基于临床诊断，在分子突变识别之前进行。我们报告了一个流行病学调查的FSHD患者，其中的诊断是通过结合临床和分子评估。调查涉及意大利东北部的帕多瓦省，该地区有871 190名居民（2004年1月1日）。我们根据临床诊断确定了40例FSHD患者。其中33例4 q35区的EcoRI片段大小在14 ~ 35 kb之间。属于同一家族的另外4名患者携带一个38 kb的片段。在这四个病例中，边缘缺失与轻度FSHD表型之间的关系通过额外的单倍型重建和分离分析得到证实。有趣的是，相同的轻度面部保留的临床模式是明显的，只有在另一个病人的EcoRI片段的32 kb，这表明，这种不寻常的FSHD表型可能是由于非常小的4 q35缺失。总的来说，估计患病率为44 × 10（-6），我们的调查证实FSHD是西方人群中最常见的神经肌肉疾病之一。
Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, Galluzzi G, Trevisan CP. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.Clin Genet 2009: 75: 550-555. (C) Blackwell Munksgaard, 2009Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease associated with a partial deletion on chromosome 4q35. Few relevant investigations have been reported on its epidemiology and were essentially based on clinical diagnosis, having been performed before recognition of the molecular mutation. We report an epidemiological survey on FSHD patients, in which the diagnosis was obtained by combined clinical and molecular evaluation. The survey concerned the north-east Italian province of Padova, an area of 871,190 inhabitants (1 January 2004). We identified 40 patients affected by FSHD based on clinical diagnosis. In 33 of them, the EcoRI fragment size in the 4q35 region ranged from 14 to 35 kb. Four other patients belonging to the same family harbored a 38-kb fragment. In these four cases, the relationship between the borderline deletion with the mild FSHD phenotype was corroborated by additional haplotype reconstruction and segregation analysis. Interestingly, the same mild facial-sparing clinical pattern was apparent only in one other patient with an EcoRI fragment of 32 kb, suggesting that this unusual FSHD phenotype may be due to very small 4q35 deletions. On the whole, estimating a prevalence rate of 44 x 10(-6), our survey confirmed FSHD as one of the most frequent neuromuscular disorders in Western populations.