Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review. (4th May 2022)

• Record Type: Journal Article
• Authors: Kayazawa, Tomoyasu; Kuniyoshi, Kazuki; Hatsukawa, Yoshikazu; Fujinami, Kaoru; Yoshitake, Kazutoshi; Tsunoda, Kazushige; Shimojo, Hiroshi; Iwata, Takeshi; Kusaka, Shunji
• Is Part Of: Ophthalmic genetics. Volume 43:Number 3(2022)
• Page Start: 400
• Page End: 408
• Publication Date: 2022-05-04
• Subjects: Leber congenital amaurosis -- NMNAT1 -- LCA9 -- inherited retinal dystrophy -- macular degeneration -- nonsense variant; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2021.2023195
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: Leber congenital amaurosis (LCA), although rare, is one of the most severe forms of early-onset inherited retinal dystrophy (IRD). Here, we review the molecular genetics and phenotypic characteristics of patients with NMNAT1- associated IRD. The longitudinal clinical and molecular findings of a Japanese girl diagnosed with LCA associated with pathogenic variants in NMNAT1 c.648delG, (p.Trp216Ter*) and c.709C>T (p.Arg237Cys) have been described to highlight the salient clinical features of NMNAT1 -associated IRD.