Cornelia de Lange Syndrome: A Variable Disorder of Cohesin Pathology
作者： Antonie D. Kline , Matthew A. Deardorff
DOI: 10.1007/S40142-015-0065-Y
关键词: Craniofacial 、 Pleiotropy 、 Pathology 、 Cohesin 、 Chromatid 、 DNA repair 、 Genetics 、 Epigenetics 、 Biology 、 Cornelia de Lange Syndrome 、 Intellectual disability
摘要: Cornelia de Lange syndrome (CdLS) is a rare multiple malformation including small stature, distinctive craniofacial features, limb anomalies, neurodevelopmental and behavioral abnormalities, other organ system pathology. Recent literature has demonstrated that typical CdLS related overlapping disorders display broad range of severity pleiotropy, suggesting considering these diagnoses as spectrum may be more appropriate. A molecular basis been identified in many individuals, with mutations five genes primarily responsible. These encode structural or regulatory proteins the cohesin protein complex, important chromatid division, cell cycle function, DNA repair, epigenetic control. This review summarizes clinical findings, current management recommendations, recent advances understanding underlying biologic mechanisms
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