Dystrophic epidermolysis bullosa: two case reports
Vol. 52 No. 3 Suppl., 2011
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ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY
Sorina Danescu, Simona Senila, Luminita Lelutiu, S. Nedevschi, Rodica Cosgarea
We identified the mutations in two patients with different phenotypes of dystrophic epidermolysis bullosa (DEB). We performed molecular diagnosis to a patient aged 45 years who showed the typical severe generalized autosomal recessive DEB signs when admitted to the hospital. The other patient is a 4-month-old boy who showed a moderate clinical aspect of DEB, dominated by nail dystrophy. The molecular diagnosis disclosed in the first patient the presence of a heterozygous mutation consisting of a nucleotide substitution that lead to a splice site mutation, namely 425-2 A>G, associated to a premature termination codon, in exon 5, namely c.553 C>T, p.R185X and in the second patient a heterozygous substitution at nucleotide position 6100 that converts a glycine amino acid to arginine (6100G>A). The mutation is designated G2034R. We conclude that molecular diagnosis is the conclusive EBD investigation, maps the phenotype of a patient with his genotype and thus allows a better understanding of the disease mechanism and the development of gene therapy. Molecular diagnosis also enables genetic counseling and prenatal diagnosis.
Corresponding author: Rodica Cosgarea, Professor, MD, PhD, e-mail: cosgarear@yahoo.com
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