Article
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
Ophthalmic genetics - 1 Jun 2021
Huang Zhiqin, Zhang Dan, Thompson Jennifer A, Jamuar Saumya S, Roshandel Danial, Jennings Luke, Mellough Carla, Charng Jason, Chen Shang-Chih, McLaren Terri L, Lamey Tina M, Chelva Enid, De Roach John N, Chan Choi Mun, McLenachan Samuel, Chen Fred K
Abstract excerpt
Background: Mutations in the RCC1 and BTB domain-containing protein 1 (RCBTB1) gene have been implicated in a rare form of retinal dystrophy. Herein, we report the clinical features of a 45-year-old Singaporean-Chinese female and her presymptomatic sibling, who each possesses compound heterozygous mutations in RCBTB1. Expression of RCBTB1 in patient-derived cells was evaluated.Materials and Methods: The natural...
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