Late Breaking Chromosomes

摘要

A standard approach in medical genetics is cataloging recognizable features of a patient in terms of a syndrome. The Cornelia de Lange Syndrome (CdLS) (OMIM 122470, 300590 and 610759) is an excellent example of such a syndrome, which can be recognized by its facial features: cleft palate, distal limb defects, growth retardation, developmental delay, hirsutism, and gastrointestinal and other visceral system phenotypes [Liu and Krantz, 2009]. Approximately 60% of CdLS patients have heterozygous mutations in the NIPBL gene (OMIM 608667) on chromosome 5p13 (CDLS1; OMIM 122470), while mutations in the cohesin ring genes SMC1A (in region Xp11.22) and SMC3 (in region 10q25.2) account for another 5% of cases. Because of the preponderance of cohesion-related mutations, CdLS is termed a ‘cohesinopathy’.