A novel ABCC6 variant causative of pseudoxanthoma elasticum.,Human Genome Variation

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A novel ABCC6 variant causative of pseudoxanthoma elasticum.
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-06-20 , DOI: 10.1038/s41439-019-0062-x
Gianluca Contrò ₁ , Rossana Tallerico _{1,

2} , Vincenzo Dattilo _{1,

2} , Fernanda Fabiani ₁ , Maria Vittoria Enzo ₃ , Uros Hladnik ₃ , Stefano Dastoli ₄ , Steven Paul Nisticò _{2,

4} , Emma Colao ₁ , Nicola Perrotti _{1,

2} , Rodolfo Iuliano _{1,

2}

Affiliation

Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of ABCC6 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 ABCC6 function.

中文翻译：

一种新型的ABCC6变种，造成弹性假性黄瘤。

弹性假黄瘤是一种由ABCC6突变引起的常染色体隐性遗传性疾病。我们描述了两个兄弟姐妹，表现出典型的皮肤病变和弹性假黄瘤的临床诊断。ABCC6的遗传分析揭示了一个新的纯合子c.4041G>一个位于外显子28最后位置的变体，该变体损害了剪接供体位点，从而导致了较短的信使RNA。缺失削弱了核苷酸结合的折叠区域，这对于ABCC6的功能至关重要。

更新日期：2019-06-20

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