一种导致弹性假黄瘤的新型变异体。
A novel variant causative of pseudoxanthoma elasticum.
作者信息
Contrò Gianluca, Tallerico Rossana, Dattilo Vincenzo, Fabiani Fernanda, Enzo Maria Vittoria, Hladnik Uros, Dastoli Stefano, Nisticò Steven Paul, Colao Emma, Perrotti Nicola, Iuliano Rodolfo
机构信息
1Medical Genetics Unit, University "Magna Graecia", Catanzaro, Italy.
2Department of Health Sciences, University "Magna Graecia", Catanzaro, Italy.
出版信息
Hum Genome Var. 2019 Jun 20;6:30. doi: 10.1038/s41439-019-0062-x. eCollection 2019.
Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in . We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of revealed a novel homozygous c.4041G > A variant located in the last position of exon 28 that compromises the splicing donor site, resulting in a shorter messenger RNA. The deletion impairs the nucleotide-binding fold region, which is crucial for function.
弹性假黄瘤是一种由……突变引起的常染色体隐性遗传性疾病。我们描述了两名表现出典型皮肤病变且临床诊断为弹性假黄瘤的兄弟姐妹。对……的基因分析发现了一个新的纯合c.4041G＞A变异，位于外显子28的最后一个位置，破坏了剪接供体位点，导致信使核糖核酸更短。该缺失损害了核苷酸结合折叠区域，这对……功能至关重要。
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