Han Elaine, Patel Nimesh A, Yannuzzi Nicolas A, Laura Diana M, Fan Kenneth C, Negron Catherin I, Prakhunhungsit Supalert, Thorson Willa L, Berrocal Audina M
Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami , Miami, FL, USA.
Department of Ophthalmology, Siriraj Hospital, Mahidol University , Bangkok, Thailand.
Ophthalmic Genet. 2020 Aug;41(4):363-367. doi: 10.1080/13816810.2020.1772315. Epub 2020 Jun 16.
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 gene. 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 gene mutations. Moreover, one of the variant mutations found in this patient has never been published before.
科茨加综合征（CP）是一种罕见疾病，其特征为双侧渗出性视网膜毛细血管扩张，并伴有主要影响大脑、骨骼和胃肠道的相关全身性疾病，这是由该基因的突变所致。已知该基因突变还会导致先天性角化不良（DC），这是一种遗传性骨髓衰竭综合征，其特征为皮肤色素沉着异常、指甲营养不良和口腔黏膜白斑。这是首例报道的由复合杂合基因突变导致同时诊断为CP和DC的患者。此外，在该患者中发现的一种变异突变此前从未发表过。
