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Open Access 01-12-2019 | Case report

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

Authors: E. G. Okuneva, A. A. Kozina, N. V. Baryshnikova, A. Yu Krasnenko, K. Yu Tsukanov, O. I. Klimchuk, E. I. Surkova, V. V. Ilinsky

Published in: BMC Dermatology | Issue 1/2019

Abstract

Background

Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or autosomal recessive. The X-linked form is now classified in the group of copper transport diseases. Autosomal dominant CL is characterized by wrinkled, redundant and sagging, inelastic skin and in some cases is associated with internal organ involvement.

Case presentation

We report a familial case of autosomal dominant CL, which includes a 33-year-old woman and her 11-year-old son with dry, thin and wrinkled skin that appeared prematurely aged. No serious involvement of internal organs was found. In both patients, we identified novel heterozygous mutation c.2323delG (p.Ala775fs) in exon 34 of elastin transcript NM_001278939.1. Similar frameshift mutations in the last exons of elastin gene were previously reported in patients with autosomal dominant CL.

Conclusions

Our results show a novel frameshift mutation that was found in patients with cutis laxa. Exome sequencing is effective and useful technology for properly diagnosis of diseases with similar phenotype to ensure proper treatment is provided.

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Title: A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report
Authors: E. G. Okuneva
A. A. Kozina
N. V. Baryshnikova
A. Yu Krasnenko
K. Yu Tsukanov
O. I. Klimchuk
E. I. Surkova
V. V. Ilinsky
Publication date: 01-12-2019
Publisher: BioMed Central
Published in: BMC Dermatology / Issue 1/2019
Electronic ISSN: 1471-5945
DOI: https://doi.org/10.1186/s12895-019-0084-6

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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