The @entity6530 gene in Xq13 is coding for a protein involved in a nuclear thyroid receptor complex. Previous studies suggested association of the dodecamer duplication in the OPA-repeat region in exon 43 (according to the genomic database sequence) with @entity2438 , @entity1032 , and @entity161 / @entity1375 . We determined the frequency of this 12 bp duplication variant in a sample of 155 @entity1 divided in different subtypes of @entity2438 , 278 parents of those @entity1 , and 157 control individuals. The allele frequency of the duplication variant was not significantly different between @entity2438 @entity1 , their parents, and the control group. Therefore, it is unlikely that this 12 bp duplication variant of the @entity6530 gene has major relevance to the susceptibility to different subtypes of @entity2438 at least in this German @entity1 sample. In addition, we identified a third variant with a 15 bp deletion in the OPA-repeat region, recently described by another group, in one @entity2438 @entity1 . This third allele was also present in the @entity1 's nonautistic mother and sister, who are heterozygous for this variant, but could not be detected in any other individual genotyped in this study. Expression analysis revealed transcription of all three allelic variants in lymphoblastoid cell lines. Furthermore, we identified a new splice variant that utilizes an additional 9 bp of the 3' intron subsequent to exon 39. Both alternative transcripts are coexpressed in all fetal and adult tissues examined.

Association studies of the XXXX dodecamer duplication variant in different subtypes of @entity2438 .

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity1375 :: ('MESH:D007037', 'Disease') :: ['hypothyroidism'] @entity1032 :: ('MESH:D008607', 'Disease') :: ['mental retardation'] @entity2438 :: ('MESH:D001321', 'Disease') :: ['autism', 'autistic'] @entity161 :: ('MESH:D012559', 'Disease') :: ['schizophrenia'] @entity6530 :: ('9968', 'Gene') :: ['HOPA']
@entity6530 :: (9968,Gene) :: ['HOPA']
