Novel mutation identified in Leber congenital amaurosis - a case report View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2020-07-31

AUTHORS

Shigeru Sato, Takeshi Morimoto, Sayaka Tanaka, Kikuko Hotta, Takashi Fujikado, Motokazu Tsujikawa, Kohji Nishida

ABSTRACT

BackgroundLeber congenital amaurosis (LCA) is the earliest onset and the most severe form of all inherited retinal degenerative disorders, characterized by blindness, or severe visual impairment from birth, and typically exhibits clinical and genetic heterogeneity. Recently, 14 causative genes of LCA were reported. We performed whole-exome sequencing (WES) for Japanese siblings, and identified a novel homozygous nonsense mutation in the RPGR-interacting protein 1 (RPGRIP1) gene. We also report their follow-up data over 27 years.Case presentationPatient 1 is a 37-year-old male. In 1992, his eye position indicated orthophoria, however, horizontal nystagmus was evident, and he complained of photophobia. His best corrected decimal visual acuity (BCVA) was 0.2 (S + 6.5/C-3.5/170°) OD and 0.1 (S + 6.0/C-2.5/10°) OS. Fundus examination revealed bisymmetrical inferior focal retinal pigment epithelium (RPE) mottling. Bright-flash electroretinogram (ERG) revealed a subnormal pattern, while 30 Hz flicker ERG was non-recordable in both eyes. At his final visit in 2019, his BCVA was 0.09 (S + 3.5/C-3.5/180°) OD and 0.09 (S + 3.0/C-4.0/10°) OS. Patient 2, a 34-year-old female, is the sibling of patient 1. In 1992, her BCVA was 0.05 (S + 6.0) OD and 0.06 (S + 5.0) OS. She was in a chin-up position during visual acuity testing. Horizontal nystagmus was evident, and she also complained of photophobia. Bright-flash ERG was severely attenuated, and 30 Hz flicker ERG was non-recordable in both eyes. At her final visit in 2019, her BCVA was 0.02 (uncorrectable) OD and 0.03 (uncorrectable) OS. There were no other patients with LCA in their family and their parents were non-consanguineous. WES revealed a homozygous, consecutive, two-nucleotide variation in the RPGRIP1 gene (NM_020366: exon15:c.G2294A and c.C2295A, p.C765X), resulting in a premature stop codon. We interpreted this variation as a novel pathogenic mutation of RPGRIP1 that contributes to LCA6 development.ConclusionsHerein, we report a novel nonsense mutation of RPGRIP1 in two patients with LCA6 and present their long-term follow-up data. These clinical data linked to genotypes provide important information for the development of new treatments, such as gene therapy, as well as for genetic counseling. More... »

PAGES

313

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12886-020-01577-9

DOI

http://dx.doi.org/10.1186/s12886-020-01577-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1129786878

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/32736544


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93 nystagmus
94 onset
95 orthophoria
96 parents
97 pathogenic mutations
98 patients
99 patterns
100 photophobia
101 pigment epithelium
102 position
103 premature stop codon
104 protein 1 gene
105 report
106 retinal degenerative disorders
107 retinal pigment epithelium
108 sequencing
109 severe form
110 severe visual impairment
111 siblings
112 stop codon
113 testing
114 therapy
115 treatment
116 variation
117 visits
118 visual acuity
119 visual acuity testing
120 visual impairment
121 whole-exome sequencing
122 years
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