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Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.

GARDELLA, Rita;BARLATI, Sergio;COLOMBI, Marina
2001-01-01
2001
Sogg. privati esteri
LS2_6 Molecular genetics, reverse genetics and RNAi
CLINICAL AND EXPERIMENTAL DERMATOLOGY
sì
2-s2.0-0035177088
WOS:000172378800018
Esperti anonimi
Inglese
Internazionale
STAMPA
26
8
710
713
4
11722462
Dystrophic epidermolysis bullosa (DEB) is a rare genetic skin disorder. In this report we have investigated an Italian child affected with recessive DEB (RDEB) and demonstrated that he was homozygous for the mutation R226X in the type VII collagen gene (COL7A1), leading to absence of type VII collagen at the dermal-epidermal junction. There was no family history of inherited skin blistering but the child's father was affected by Marfan syndrome, an autosomal dominant connective tissue disorder that results from mutations in the fibrillin-1 gene (FBN1). Analysis of this gene showed that the RDEB patient and his father were both heterozygous for a novel FBN1 mutation, C1971Y. This mutation affects one of the six obligate cysteine residues within one of the calcium-binding epidermal growth factor-like regions of the protein. At the age of 2-years the RDEB patient showed signs of early aortic dilatation, suggesting that he is likely to develop a Marfan syndrome phenotype in the future. This is a unique case of these two coexisting inherited disorders.
Epidermolysis bullosa; COL7A1; Marfan syndrome; FBN1
7
info:eu-repo/semantics/article
262
Gardella, Rita; Nuytinck, L; Barlati, Sergio; Van Acker, P; Tadini, G; De Paepe, A; Colombi, Marina
1 Contributo su Rivista::1.1 Articolo in rivista
none
1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11379/35242
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