A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations

Elaine Han, Nimesh A. Patel, Nicolas A. Yannuzzi, Diana M. Laura, Kenneth C. Fan, Catherin I. Negron, Supalert Prakhunhungsit, Willa L. Thorson, Audina M. Berrocal

Research output: Contribution to journalArticle

Abstract

Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the CTC1 gene. CTC1 mutations are also known to cause dyskeratosis congenita (DC), which is an inherited bone marrow failure syndrome characterized by skin pigmentation abnormalities, nail dystrophy, and oral leukoplakia. This is the first reported case of a patient diagnosed with both CP and DC caused by compound heterozygous CTC1 gene mutations. Moreover, one of the variant mutations found in this patient has never been published before.

Original languageEnglish (US)
Pages (from-to)363-367
Number of pages5
JournalOphthalmic Genetics
Volume41
Issue number4
DOIs
StatePublished - Jul 3 2020

Keywords

  • CTC1 mutation
  • coats plus syndrome
  • dyskeratosis congenita
  • gene mutation
  • pediatric retina

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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    Han, E., Patel, N. A., Yannuzzi, N. A., Laura, D. M., Fan, K. C., Negron, C. I., Prakhunhungsit, S., Thorson, W. L., & Berrocal, A. M. (2020). A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations. Ophthalmic Genetics, 41(4), 363-367. https://doi.org/10.1080/13816810.2020.1772315