De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome

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dc.contributor.authorCatalán, Javiera
dc.contributor.authorRodríguez, Fernando
dc.contributor.authorYubero, María
dc.contributor.authorPalisson, Francis
dc.contributor.authorGana, María
dc.contributor.authorKrämer, Susanne
dc.contributor.authorRepetto, Gabriela
dc.date.accessioned2017-05-26T15:49:31Z
dc.date.available2017-05-26T15:49:31Z
dc.date.issued2012
dc.descriptionCentro de Genética y Genómica
dc.description.abstractBACKGROUND: 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 COL7A1, the gene coding for the type VII collagen. We report a patient affected by both conditions: DS and DDEB. METHODS: 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. COL7A1 mutations were screened by heteroduplex analysis using conformation-sensitive gel electrophoresis and sequencing. RESULTS: Karyotype analysis revealed trisomy 21. Histological study agreed with a DEB diagnosis. Mutational analysis showed a heterozygous c.6127G>T mutation in COL7A1, which is compatible with DDEB. Parental study suggests that c.6127G>T arises as a de novo mutation. CONCLUSIONS: This report demonstrates that EB can be associated with other common conditions and reports the case of a patient who suffered two de novo independent genetic conditions. It also contributes to expanding the knowledge and database of clinical and molecular aspects of DDEB.
dc.format.extent4
dc.identifier.citationInternational Journal of Dermatology, 2012 Sep;51(9):1078-81
dc.identifier.urihttp://hdl.handle.net/11447/1349
dc.identifier.urihttp://dx.doi.org/10.1111/j.1365-4632.2011.05428.x
dc.language.isoen_US
dc.publisherJohn Wiley & Sons
dc.subjectCollagen Type VII/genetics
dc.subjectDown Syndrome/complications
dc.subjectEpidermolysis Bullosa Dystrophica/complications
dc.subjectEpidermolysis Bullosa Dystrophica/genetics
dc.subjectKaryotype
dc.subjectPoint Mutation
dc.titleDe Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome
dc.typeArtículo
dc.typeArtículo

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