Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 710-713 |
| Number of pages | 4 |
| Journal | Clinical and Experimental Dermatology |
| Volume | 26 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - 2001 |
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ASJC Scopus subject areas
- Dermatology
Cite this
Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient. / Gardella, R.; Nuytinck, L.; Barlati, S.; Van Acker, P.; Tadini, G.; De Paepe, A.; Colombi, M.
In: Clinical and Experimental Dermatology, Vol. 26, No. 8, 2001, p. 710-713.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient
AU - Gardella, R.
AU - Nuytinck, L.
AU - Barlati, S.
AU - Van Acker, P.
AU - Tadini, G.
AU - De Paepe, A.
AU - Colombi, M.
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0035177088&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035177088&partnerID=8YFLogxK
U2 - 10.1046/j.1365-2230.2001.00924.x
DO - 10.1046/j.1365-2230.2001.00924.x
M3 - Article
C2 - 11722462
AN - SCOPUS:0035177088
VL - 26
SP - 710
EP - 713
JO - Clinical and Experimental Dermatology
JF - Clinical and Experimental Dermatology
SN - 0307-6938
IS - 8
ER -