They are highly expressed in the brain, particularly in the hippocampal mossy fibers, where GLuR6 has been found to modulate long-term potentiation LTP in mouse models Bortolotto et al. Prevalence and architecture of de novo mutations in developmental disorders.
Help Community portal Recent changes Upload file. We attempt to summarize commonalities between the genes and the molecular pathways of their encoded proteins.
Kleefstra T, Hamel BC. In addition to the zinc finger proteins, several other transcriptional regulators are implicated in NS-ID. Combining the mapping of translocations and CNV breakpoints with candidate gene sequencing has been an important method for identifying ADID genes. It is also notable that BRWD3a gene found in both NS-ID and S-ID contains a bromodomain—a conserved protein motif that recognizes acetylated lysine residues, and is found in chromatin associated proteins and histone acetyltransferases Field et al.
The reason for this striking pleiotropy is currently unknown but could be essential for understanding the role ARX in ID. This therapy allows the exon containing the truncating mutation to be skipped so that the rest of the gene is transcribed Arnett et al.
A— It is often necessary to look at these diagnoses together, as there is significant overlap between them. Classification of ID by IQ and syndromic vs.
The first is that affected fathers cannot pass x-linked recessive traits to their sons because fathers give Y chromosomes to their sons. Genome Biol. Manuscript draft: LBM. Shaw-Smith, C. Carriers can pass abnormal genes to their children.