<i>De Novo COL7A1</i> mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome
Journal
International Journal of Dermatology
ISSN
0011-9059
1365-4632
Date Issued
2012
Author(s)
Javiera A. Catalán
Fernando A. Rodríguez
María J. Yubero
María J. Gana
Susanne M. Krämer
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Abstract
<jats:title>Abstract</jats:title><jats:p><jats:bold>Background </jats:bold> Down syndrome (DS) is the most common autosomal chromosomal disorder. Epidermolysis bullosa (EB) is a rare genodermatosis characterized by skin and mucous membrane fragility, with formation of blisters and erosions after minor trauma. Dystrophic EB (DEB) is inherited as an autosomal dominant (DDEB) or recessive (RDEB) trait. Both forms are caused by mutations in <jats:italic>COL7A1</jats:italic>, the gene coding for the type VII collagen. We report a patient affected by both conditions: DS and DDEB.</jats:p><jats:p><jats:bold>Methods </jats:bold> A patient with DS developed generalized blisters at the age of three months. Cytogenetic study was performed to confirm DS. Skin biopsies were examined with immunohistochemical and electron microscopy techniques to determine EB subtype. Genomic DNA was extracted from peripheral blood samples. <jats:italic>COL7A1</jats:italic> mutations were screened by heteroduplex analysis using conformation‐sensitive gel electrophoresis and sequencing.</jats:p><jats:p><jats:bold>Results </jats:bold> Karyotype analysis revealed trisomy 21. Histological study agreed with a DEB diagnosis. Mutational analysis showed a heterozygous c.6127G>T mutation in <jats:italic>COL7A1</jats:italic>, which is compatible with DDEB. Parental study suggests that c.6127G>T arises as a <jats:italic>de novo</jats:italic> mutation.</jats:p><jats:p><jats:bold>Conclusions </jats:bold> This report demonstrates that EB can be associated with other common conditions and reports the case of a patient who suffered two <jats:italic>de novo</jats:italic> independent genetic conditions. It also contributes to expanding the knowledge and database of clinical and molecular aspects of DDEB.</jats:p>
Subjects
dermatological manifestations