XXXX in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in @entity3687 .

@entity1 @entity644 @entity2194 @entity72809 @entity8 @entity101 @entity72811 @entity3686 @entity72810 @entity3687 @entity2319 @entity177 @entity1274 @entity13634 @entity72808 @entity454
The @entity3686 ( @entity3686 ) is caused by mutations in @entity3687 and exhibits a widely variable expression. Usually @entity3686 is heralded with continuous microhematuria which rapidly progresses to @entity644 , @entity101 and @entity454 ( @entity454 ) by adolescence, frequently accompanied by @entity1274 and @entity2194 . Milder forms of @entity3686 also exist. We studied 42 @entity1 (19M, 23F) of nine Hellenic families suspected clinically of X-linked @entity3686 who presented with marked phenotypic heterogeneity. We identified mutations in @entity3687 in six families. Two males with nonsense mutation @entity72808 reached @entity454 by ages 14 and 18. Frameshift mutation @entity72809 followed the same course with early onset @entity8 and @entity2319 . However, two males with the milder missense mutation @entity72810 , reached @entity454 after 39 years and one @entity1 showed @entity8 ( @entity8 ). Another 5/8 affected males with missense mutation @entity72811 also developed @entity454 between 30 and 57 years, while three exhibit only mild @entity177 ( @entity177 ). The data support previous findings that certain mutations are associated with milder phenotypes and confirm that mutation @entity72810 may be expressed as @entity8 with @entity13634 . Similar conclusions apply for missense mutation @entity72811 . Interestingly, mutations @entity72810 and @entity72811 are near the 12th natural interruption of @entity3687 triple helical domain, which may explain the milder phenotype.
