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Von Hippel—Lindau disease in twins: clinical and molecular study
Author(s) -
Daniele S.,
Pelliccioli G. P.,
Daniele C,
Mandich P.,
Montera M.,
Simoncelli C.,
Bianchi M.,
Cavaliere A.
Publication year - 1996
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.1996.tb00276.x
Subject(s) - medicine , penetrance , von hippel–lindau disease , pathology , disease , genetics , phenotype , gene , biology
von Hippel Lindau disease is a familial syndrome transmitted as an autosomal dominant trait with variable penetrance and expression. It presents with vascular tumours that involve the central nervous system, visceral organs and other tissues. Although sporadic cases have been described, it usually affects several members of a family. We report two young male twins with simultaneously manifesting haemangioblastomas of the right cerebellar hemisphere. In one, the neoplasm was associated with medullary and spinal cord solid tumours; in the other, with a nasopharyngeal bleeding fibroangioma, an association not described previously. No other member of the family had retinal lesions. A grand mother had bilateral high myopia and glaucoma. A third sib, two years older, presented on his right forearm with a cafè au lait skin spot The preliminary findings of the molecular study still in progress on all the living members of the family have evidenced DNA mutation in the twins only, i.e. an A/G transition in the exon 1B of the VHL gene. This base change determines an asparagine substitution with a serine at codon 446 of the protein.