A novel ABCC6 variant causative of pseudoxanthoma elasticum

被引：0
作者：
Gianluca Contrò
Rossana Tallerico
Vincenzo Dattilo
Fernanda Fabiani
Maria Vittoria Enzo
Uros Hladnik
Stefano Dastoli
Steven Paul Nisticò
Emma Colao
Nicola Perrotti
Rodolfo Iuliano
机构：
[1] University “Magna Graecia”,Medical Genetics Unit
[2] University “Magna Graecia”,Department of Health Sciences
[3] “Mauro Baschirotto” Institute for Rare Disease,Medical Genetics Unit
[4] University “Magna Graecia”,Dermatology Unit
来源：
Human Genome Variation | / 6卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
引用
收藏
相关论文
共 25 条
  • [1] Germain DP(2017)Pseudoxanthoma elasticum Orphanet J. Rare Dis. 12 347-350
  • [2] Lebwohl M(1987)Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions N. Engl. J. Med. 317 103-107
  • [3] Lebwohl M(1994)Classification of pseudoxanthoma elasticum: report of a consensus conference J. Am. Acad. Dermatol. 30 223-227
  • [4] Le Saux O(2000)Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum Nat. Genet. 25 621-628
  • [5] Pfendner EG(2007)Mutation detection in the J. Med. Genet. 44 2745-2747
  • [6] Choi Y(2015) gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum Bioinformatics 31 3-39
  • [7] Chan AP(2009)PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels Nucleic Acids Res. 37 1605-1612
  • [8] Desmet F-O(2017)Human Splicing Finder: an online bioinformatics tool to predict splicing signals Methods Mol. Biol 1558 285-291
  • [9] Chen C(2004)Protein bioinformatics databases and resources J. Comput. Chem. 25 6172-6177
  • [10] Huang H(2016)UCSF Chimera—a visualization system for exploratory research and analysis Nature 536 1-20
123