ANO5

ANO5
  • 文章类型: Case Reports
    在这里,我们报告了两名不相关的成年患者,他们患有四肢带型肌营养不良症,他们被发现在ANO5中有新的变异。两名患者的近端下肢均明显无力,肘关节屈膝轻度无力,肌酸激酶明显升高。在两名患者中使用定制设计的神经肌肉小组进行下一代测序。在一个病人中,336个基因是针对偶然变异和其他患者的(使用后来的小组设计),464个基因被靶向。一名患者在ANO5中为新的剪接变体[c.294+5G>A;p.(Ala98Ins4*)]纯合。另一名患者是ANO5中两种变体的复合杂合;一个常见的移码变体[c.191dupA;p.(Asn64fs)]和一个新的错义变体[c.952G>C;p.(Ala318Pro)]。这些发现支持下一代测序在诊断患有肢带肌营养不良表型的患者中的实用性,并扩展了ANO5疾病的基因型谱。
    Here we report on two unrelated adult patients presenting with Limb girdle muscular dystrophy who were found to have novel variants in ANO5. Both patients had prominent weakness of their proximal lower limbs with mild weakness of elbow flexion and markedly elevated creatine kinase. Next generation sequencing using a custom-designed neuromuscular panel was performed in both patients. In one patient, 336 genes were targeted for casual variants and in the other patient (using a later panel design), 464 genes were targeted. One patient was homozygous for a novel splice variant [c.294+5G>A; p.(Ala98Ins4*)] in ANO5. Another patient was compound heterozygous for two variants in ANO5; a common frameshift variant [c.191dupA; p.(Asn64fs)] and a novel missense variant [c.952G>C; p.(Ala318Pro)]. These findings support the utility of next generation sequencing in the diagnosis of patients presenting with a Limb girdle muscular dystrophy phenotype and extends the genotypic spectrum of ANO5 disease.
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