Coexistence of different phenotypes in a family with XXXX .

@entity1 @entity6330 @entity1369 @entity101 @entity6043 @entity13232 @entity2819 @entity619 @entity49227 @entity66871 @entity4419 @entity25010 @entity972 @entity916 @entity701 @entity4420
In @entity25010 ( @entity25010 ), there is a large interfamily variation of phenotype. We report three subjects with @entity25010 in a single family (parents, two brothers and two sisters), of whom only one (proband) displayed classical features of the mineralocorticoid excess. The proband was a @entity1 found to be @entity101 and hypokalaemic at the age of 24 years. Plasma @entity916 activity was suppressed and plasma @entity1369 was repeatedly elevated. Blood pressure and @entity1369 levels normalized within 5 days of @entity619 therapy. The presence of a chimaeric @entity6043 / @entity6330 gene was demonstrated by long-PCR and Southern blotting (crossover site at the end of intron 3) in the proband, in the younger sister (sibling 1) and in the father. In these @entity1 , sequencing of the chimaeric portion of @entity6043 did not reveal any mutation, while sequencing of the chimaeric portion of @entity6330 showed a @entity66871 polymorphism in exon 7, known to cause only a minimal impairment of enzymatic activity. Sibling 1 was normotensive, normokalaemic and had normal PRA and @entity1369 . The father had normal blood pressure and @entity972 , low-normal PRA and normal @entity1369 . All three subjects had elevated levels of urinary @entity13232 and @entity49227 . Baseline @entity4420 ( @entity4420 ), @entity2819 (B) and @entity1369 were high in the proband and normal in the father and sibling 1; @entity4419 (S) and @entity701 (F) were normal. ACTH induced a normal increase of B, @entity4420 , S and F, and an excessive @entity1369 increase in all three @entity1 . Abnormalities in the chimaeric portions of CYB11B1 or @entity6330 genes did not account for the phenotypic disparity of the different members in a single @entity25010 family. Altered regulation of the chimaeric gene may be responsible for differences in its activity.
