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

共 50 条

[21] Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa
Yoshida, S
Honda, M
Yoshida, A
Nakao, S
Goto, Y
Nakamura, T
Fujisawa, K
Ishibashi, T
EYE, 2005, 19 (02) : 215 - 217
[22] Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa
S Yoshida
M Honda
A Yoshida
S Nakao
Y Goto
T Nakamura
K Fujisawa
T Ishibashi
Eye, 2005, 19 : 215 - 217
[23] Pseudoxanthoma Elasticum: A Novel Mutation in the ABCC6 Gene That Affects Eye Manifestations of the Disease
Hesse, Richard J.
Groetsch, Joshua
Burshell, Alan
OCHSNER JOURNAL, 2010, 10 (01): : 13 - 15
[24] Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
Laura MF Costrop
Olivier OM Vanakker
Lut Van Laer
Olivier Le Saux
Ludovic Martin
Nicolas Chassaing
Deanna Guerra
Ivonne Pasquali- Ronchetti
Paul J Coucke
Anne De Paepe
Journal of Human Genetics, 2010, 55 : 112 - 117
[25] Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
Costrop, Laura M. F.
Vanakker, Olivier O. M.
Van Laer, Lut
Le Saux, Olivier
Martin, Ludovic
Chassaing, Nicolas
Guerra, Deanna
Pasquali-Ronchetti, Ivonne
Coucke, Paul J.
De Paepe, Anne
JOURNAL OF HUMAN GENETICS, 2010, 55 (02) : 112 - 117
[26] New ABCC6 gene mutations in German pseudoxanthoma elasticum patients
Doris Hendig
Veronika Schulz
Jutta Eichgrün
Christiane Szliska
Christian Götting
Knut Kleesiek
Journal of Molecular Medicine, 2005, 83 : 140 - 147
[27] ABCC6 does not transport adenosine - Relevance to pathomechanism of pseudoxanthoma elasticum
Szabo, Zalan
Varadi, Andras
Li, Qiaoli
Uitto, Jouni
MOLECULAR GENETICS AND METABOLISM, 2011, 104 (03) : 421 - 421
[28] New ABCC6 gene mutations in German pseudoxanthoma elasticum patients
Hendig, D
Schulz, V
Eichgrün, J
Szliska, C
Götting, C
Kleesiek, K
JOURNAL OF MOLECULAR MEDICINE-JMM, 2005, 83 (02): : 140 - 147
[29] Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum
Sun, Qiao
Wang, Weijun
Wu, Lifang
Cheng, Lu
Tong, Xuemei
Xu, Xun
ACTA OPHTHALMOLOGICA, 2019, 97 (03) : E381 - E389
[30] Molecular genetics of pseudoxanthoma elasticum:: Type and frequency of mutations in ABCC6
Miksch, S
Lumsden, A
Guenther, UP
Foernzler, D
Christen-Zäch, S
Daugherty, C
Ramesar, RS
Lebwohl, M
Hohl, D
Neldner, KH
Lindpaintner, K
Richards, RI
Struk, B
HUMAN MUTATION, 2005, 26 (03) : 235 - 248

← 1 2 3 4 5 →