Cornelia de Lange syndrome

Definition:

Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder characterized by facial dysmorphia, upper limb defects, hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8.

References:

[1]. Ekaterina Revenkova, et al. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet. 2009 Feb 1;18(3):418-27. [Content Brief]

[2]. J Liu, et al. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet. 2009 Oct;76(4):303-14. [Content Brief]

[3]. Linda Mannini, et al. Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. Hum Mutat. 2010 Jan;31(1):5-10. [Content Brief]

[4]. Magdalena Ratajska, et al. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet. 2010 Nov-Dec;53(6):378-82. [Content Brief]

[5]. Matthew A Deardorff, et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012 Sep 13;489(7415):313-7. [Content Brief]

[6]. Matthew A Deardorff, et al. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet. 2012 Jun 8;90(6):1014-27. [Content Brief]

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