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Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

机译:2A型肢带型肌营养不良患者的整个CAPN3基因缺失

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摘要

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a typical LGMD2A phenotype and posterior compartment involvement on MRI. Different genetic analyses were performed, including microarray analysis. There was an apparently homozygous mutation in exon 24, c.2465G>T, p.(*822Leuext62*), and a lack of correlation in the disease segregation analyses. This suggested the presence of a genomic rearrangement. In fact, a heterozygous deletion of the entire CAPN3 gene was found. This novel deletion comprised the terminal region of the GANC gene and the entire CAPN3 gene. This finding points out the need to reconsider and adapt our current strategy of molecular diagnosis in order to detect these types of genomic rearrangements that escape standard mutation screening procedures.
机译:由于CAPN3基因突变而导致的2A型腰带型肌营养不良症(LGMD2A)是常染色体隐性隐性腰带型肌营养不良症中最常见的一种。我们描述了一个具有典型LGMD2A表型和MRI后房受累的患者。进行了不同的遗传分析,包括微阵列分析。在外显子24上存在明显的纯合突变,c.2465G> T,p。(* 822Leuext62 *),并且在疾病隔离分析中缺乏相关性。这表明存在基因组重排。实际上,发现了整个CAPN3基因的杂合缺失。这种新的缺失包括GANC基因的末端区域和整个CAPN3基因。这一发现指出需要重新考虑和适应我们目前的分子诊断策略,以便检测出逃避标准突变筛选程序的这些类型的基因组重排。

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