Anderson Sylvia L, Ekstein Josef, Donnelly Mary C, Keefe Erin M, Toto Nicole R, LeVoci Lauretta A, Rubin Berish Y
Department of Biological Sciences, Fordham University, Larkin Hall 160, Bronx, NY 10458, USA.
Hum Genet. 2004 Aug;115(3):185-90. doi: 10.1007/s00439-004-1140-8. Epub 2004 Jun 23.
Nemaline myopathy (NM) is a neuromuscular disorder that is clinically diverse and can be attributed to mutations in any of several genes. The Ashkenazi Jewish population, which represents a relatively genetically homogeneous group, has an increased frequency of several genetic disorders and has been the beneficiary of genetic screening programs that have reduced the incidence of these diseases. The identification of individuals with NM in this population has prompted a study of its cause. Our study has revealed that five NM patients from five families bear an identical 2,502-bp deletion that lies in the nebulin gene and that includes exon 55 and parts of introns 54 and 55. The absence of this exon results in the generation of a transcript that encodes 35 fewer amino acids. An analysis of the gene frequency of this mutation in a random sample of 4,090 Ashkenazi Jewish individuals has revealed a carrier frequency of one in 108.
杆状体肌病(NM)是一种神经肌肉疾病,临床表现多样,可归因于多个基因中任何一个的突变。阿什肯纳兹犹太人群体是一个基因相对同质的群体,几种遗传疾病在该群体中的发病率有所增加,并且该群体受益于降低这些疾病发病率的基因筛查项目。在该群体中对NM患者的识别促使了对其病因的研究。我们的研究表明,来自五个家庭的五名NM患者携带一个相同的2502碱基对缺失,该缺失位于伴肌动蛋白基因中,包括第55外显子以及第54和55内含子的部分区域。该外显子的缺失导致生成一种转录本,其编码的氨基酸减少35个。在4090名阿什肯纳兹犹太个体的随机样本中对该突变的基因频率分析显示,携带者频率为1/108。