No evidence of locus heterogeneity in @entity4242 with or without @entity989 , XXXX , or @entity1032 .

@entity1 @entity1032 @entity4269 @entity4242 @entity735 @entity74 @entity989 @entity717 @entity13501
BACKGROUND: @entity4242 with or without @entity989 , @entity4269 , or @entity1032 ( @entity13501 ) is a rare @entity74 with variable expressivity. It is characterized by mild-to-severe @entity4242 , often associated with @entity717 , @entity735 and @entity4269 . It can be sporadic or inherited. Eighty-seven @entity1 have been described to carry a mutation in @entity13501 , which encodes a homotetrameric motor kinesin, @entity13501 . METHODS: We tested 23 unreported @entity13501 index @entity1 for @entity13501 . We also reviewed the clinical phenotypes of all our @entity1 as well as of those described in previously published studies. RESULTS: We identified 14 mutations, 12 of which are novel. We detected mutations in 12 affected individuals, from 6 out of 6 familial cases, and in 8 out of 17 sporadic @entity1 . Phenotypic evaluation of @entity1 (our 26   +   61 earlier published   =   87) revealed @entity4242 in 91%, @entity735 in 72%, @entity717 in 67% and @entity4269 in 47% of the @entity1 . Unaffected carriers were rare (4 out of 87: 5%). Family history is not a requisite for diagnosis; 31% (16 out of 52) were de novo cases. CONCLUSIONS: All inherited cases, and 50% of sporadic cases of @entity13501 are due to germline @entity13501 mutations. It is possible that mosaic @entity13501 mutations cause the remainder of sporadic cases, which the methods employed here were not designed to detect. On the other hand, some of them might have another mimicking disorder and @entity74 , as @entity4242 is highly heterogeneous. In aggregate, @entity13501 mutations likely cause the majority, if not all, of @entity13501 .
