Coats plus syndrome

Definition:

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. The most characteristic features are retinal telangiectasia and exudates, and a distinctive pattern of intracranial calcification with an associated leukodystrophy and brain cysts. It has been reported that mutations CTC1 and STN1 cause CRMCC. Both of them are members of CST complex, that plays multiple roles in telomere C-strand synthesis.

References:

[1]. Amos J Simon, et al. Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects. J Exp Med. 2016 Jul 25;213(8):1429-40. [Content Brief]

[2]. Beverley H Anderson, et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet. 2012 Jan 22;44(3):338-42. [Content Brief]

[3]. T A Briggs, et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A. 2008 Jan 15;146A(2):182-90. [Content Brief]

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