Disorders of Transcriptional Regulation: An Emerging Category of Multiple
Malformation Syndromes
Summary:
Human multiple malformation syndromes which can serve as useful basis to fully understand the embryogenesis, since such malformation syndromes arise as a consequence of abnormal embryonic development. The recent introduction of next-generation sequencing (NGS) technology has accelerated the pace of multiple malformation syndrome studies. NGS technology made a several advantages including high-throughput sequencing capability and precise quantification of nucleotides. By taking advantage of technology, our understanding of multiple malformation syndromes has been deepened, and the significant contribution of transcriptional disturbance in the pathogenesis of these syndromes has been revealed. In this review article, multiple malformation syndromes characterized by primary disruption of transcriptional regulation and categorized as ‘disorders of transcriptional regulation.
The smilarities between the clinical phenotypes of diverse syndromic diagnoses facilitate the identification of common molecular mechanisms linking these diverse diagnoses on a pathogenetic level. Such insights have contributed significantly not only to widen our understanding of the etiologies of these malformation syndromes, but also in shedding light on the mechanism of fundamental cellular processes such as gene transcription. Due to the increasing use of NGS-based technologies in the clinical and research fields, novel gene discovery will continue to provide insights into the molecular controls of transcription and will further our understanding of a growing class of diagnoses – the disorders of transcriptional regulation. Elucidation of the mechanisms of transcriptional abnormalities underlying disorders of transcriptional regulation will contribute to the advancement of both clinical genetics and molecular cell biology.
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