UNASSIGNED: @entity4297 ( @entity4297 ) are found in ~50  % of @entity1467 ( @entity1467 ) @entity1 . Genetic variants have been implicated, including @entity68699 mutations, but no previous study has examined the candidate genes, @entity21505 and @entity15774 , in @entity1467 @entity1 with secundum @entity118 (ASDII) and @entity1757 ( @entity1757 ). Furthermore, @entity68699 mutations have not yet been studied in Mexican @entity1467 @entity1 with @entity474 ( @entity474 ). Mexican @entity1467 @entity1 (n  =  148) with standard trisomy 21 were classified as follows: group I, normal heart; group II, @entity1757 , ASDII, or both; and group III, @entity474 . Mexican healthy controls (n  =  113) were also included. Sequence analysis was performed on @entity21505 and @entity15774 in all three groups, and on @entity68699 in only group III. Statistical differences in the percentages of functional variants were analyzed by Fisher's exact test. Three non-synonymous variants in @entity21505 were identified in the heterozygous state: a novel @entity29423 was found in one @entity1467 @entity1 without @entity4297 ; the @entity68700 was found in one ASDII @entity1 ; and the @entity40291 ( @entity40291 ) was found in three @entity1 (one from each @entity1467 study group). The @entity68700 and @entity40291 were also documented in 0.88  % of the controls. No significant difference was observed between the @entity1467 groups and healthy controls. Germline mutations in the @entity21505 , @entity15774 , and @entity68699 genes do not appear to be associated with @entity4297 in Mexican @entity1467 @entity1 . Our findings also support the notion that the @entity40291 variant of @entity21505 is a polymorphism, as it was not significantly different between our @entity1467 @entity1 and controls.

Germline Mutations in XXXX , @entity15774 , and @entity68699 are Rare in a Mexican Sample of Down Syndrome @entity1 with Endocardial Cushion and Septal Heart Defects.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity40291 :: ('p|SUB|R|25|C', 'ProteinMutation') :: ['R25C', 'p.Arg25Cys'] @entity68699 :: ('78987', 'Gene') :: ['CRELD1'] @entity68700 :: ('p|SUB|E|21|Q', 'ProteinMutation') :: ['p.Glu21Gln'] @entity1757 :: ('MESH:D006345', 'Disease') :: ['VSD', 'ventricular septal defects'] @entity474 :: ('MESH:C562831', 'Disease') :: ['AVSD', 'atrioventricular septal defects'] @entity21505 :: ('1482', 'Gene') :: ['NKX2-5'] @entity1467 :: ('MESH:D004314', 'Disease') :: ['Down syndrome', 'DS'] @entity15774 :: ('2626', 'Gene') :: ['GATA4'] @entity118 :: ('MESH:D006344', 'Disease') :: ['atrial defects'] @entity29423 :: ('p|SUB|P|5|S', 'ProteinMutation') :: ['p.Pro5Ser'] @entity4297 :: ('MESH:D006330', 'Disease') :: ['CHD', 'Congenital heart defects']
@entity21505 :: (1482,Gene) :: ['NKX2-5']
