@entity3796 ( @entity3796 ) is characterized by severe @entity3797 , @entity3798 , and @entity2651 . The gene responsible for this pleiotropic syndrome ( @entity22577 ) consists of 12 exons, 8 of them coding for a transmembrane protein ( @entity22577 ; @entity22577 -A) involved in the developmental process of epithelial-mesenchymal interaction. @entity22577 mutations that cause alterations in this protein lead to the @entity3796 phenotype. The major objective of the present study was to detect @entity22577 mutations in four Brazilian families with the @entity3796 phenotype and to compare them to the more than 60 different mutations already reported. DNA of the @entity22577 -A coding exons was amplified by PCR, and single strand conformation analysis (SSCA) of the electrophoretic bands was carried out in @entity2975 gel stained with @entity7292 . Two of these four families showed altered DNA band patterns. Subsequent DNA sequencing of the two mutated exons showed: (1) a 36 @entity377 deletion at exon 5 responsible for the loss of four Gly-X-Y repeats of the collagen subdomain of @entity22577 ) a @entity2774 deletion at exon 6 (966 or 967 sites) that alters @entity22577 -A after @entity535 241 and leads to a premature ending at @entity535 279. This mutation at exon 6 seems not to have been reported previously and determines a truncated @entity22577 -A without a part of its extracellular domain that contains the whole TNF homologue subdomain. These two DNA mutations are compatible with the @entity3796 phenotype. In the other two families the PCR-SSCA methodology was unable to detect any mutation responsible for the @entity3796 phenotype.

XXXX mutations in Brazilian families.

@entity3798 :: ('MESH:D007039', 'Disease') :: ['hypotrichosis'] @entity2651 :: ('MESH:D000848', 'Disease') :: ['hypodontia'] @entity535 :: ('CHEBI:33704', 'Chemical') :: ['amino acid'] @entity7292 :: ('MESH:D012835', 'Chemical') :: ['silver nitrate'] @entity377 :: ('CHEBI:36976', 'Chemical') :: ['nucleotide'] @entity3796 :: ('MESH:D053358', 'Disease') :: ['X-linked hypohidrotic ectodermal dysplasia', 'XLHED'] @entity2774 :: ('MESH:D006147', 'Chemical') :: ['guanine'] @entity2975 :: ('CHEBI:51135', 'Chemical') :: ['polyacrylamide'] @entity22577 :: ('1896', 'Gene') :: ['EDA', 'ectodysplasin-A', 'EDA-A; (2', 'ED1'] @entity3797 :: ('MESH:D007007', 'Disease') :: ['hypohidrosis']
@entity3796 :: (MESH:D053358,Disease) :: ['X-linked hypohidrotic ectodermal dysplasia']
