Exclusion of Mutations in the Dysferlin Alternative Exons 1 of DYSF-v1, 5a, and 40a in a Cohort of 26 Patients
Exclusion of Mutations in the Dysferlin Alternative Exons 1 of DYSF-v1, 5a, and 40a in a Cohort of 26 Patients
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DOI：
10.1089/gtmb.2009.0131
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发表时间：
2010-02-01
影响因子：
1.4
通讯作者：
Levy, Nicolas
中科院分区：
文献类型：
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作者：
Krahn, Martin;Labelle, Veronique;Levy, Nicolas
去铁蛋白基因突变(DYSF；MIM#603009，2p13，GenBank NM_003494.2)可导致原发性去铁蛋白缺乏症，即常染色体隐性遗传性肌营养不良。DYSF突变谱大，基因诊断复杂，突变检测率不完全。最近，通过鉴定DYSF-v1的第1外显子(GenBank DQ267935)、外显子5a(GenBank DQ976379)和外显子40a(GenBank EF015906)，发现了新的deferlin转录本。为了评估新发现的DYSF替代外显子的可能突变的频率，我们在26名患者的队列中筛选了相应的基因组区域的突变，在55个典型的DYSF外显子中，只有一个突变无疑被认为是疾病的原因。在DYSF-v1、外显子5a和外显子40a的替代外显子1中没有发现致病突变，表明这些外显子的致病突变频率很低。
Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM_003494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational spectrum, and genetic diagnosis is complicated by incomplete mutation detection rates. Recently, novel dysferlin transcripts were characterized by identifying alternative exons 1 of DYSF-v1 (GenBank DQ267935), exon 5a (GenBank DQ976379), and exon 40a (GenBank EF015906). To evaluate the frequency of possible mutations in the newly identified DYSF alternative exons, we screened the corresponding genomic regions for mutations in a cohort of 26 patients, carrying only one mutation undoubtedly considered as disease causing in the 55 canonical DYSF exons. No disease-causing mutation was identified in alternative exons 1 of DYSF-v1, exon 5a, and exon 40a, demonstrating a low frequency of disease-causing mutations in these exons.