A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report
Autor: | Elena Grigorievna Okuneva, V V Ilinsky, A. Yu. Krasnenko, Natalia Vladimirovna Baryshnikova, K. Yu. Tsukanov, Anastasiya Aleksandrovna Kozina, O. I. Klimchuk, E. I. Surkova |
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Jazyk: | angličtina |
Rok vydání: | 2019 |
Předmět: |
Adult
Male Connective Tissue Disorder Elastolysis Heterozygote DNA Mutational Analysis Case Report Dermatology Biology Cutis Laxa Frameshift mutation 030207 dermatology & venereal diseases 03 medical and health sciences Exon 0302 clinical medicine Progeria Exome Sequencing lcsh:Dermatology medicine Humans Child Frameshift Mutation Gene Exome sequencing Genetics Exons lcsh:RL1-803 medicine.disease Kazakhstan Elastin 030220 oncology & carcinogenesis biology.protein Female ELN Cutis laxa |
Zdroj: | BMC Dermatology BMC Dermatology, Vol 19, Iss 1, Pp 1-5 (2019) |
ISSN: | 1471-5945 |
Popis: | 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. |
Databáze: | OpenAIRE |
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