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Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.
- Source :
-
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Sep; Vol. 184 (3), pp. 694-707. Date of Electronic Publication: 2020 Aug 26. - Publication Year :
- 2020
-
Abstract
- Stargardt disease 1 (STGD1) is the most prevalent retinal dystrophy caused by pathogenic biallelic ABCA4 variants. Forty-two unrelated patients mostly originating from Western China were recruited. Comprehensive ophthalmological examinations, including visual acuity measurements (subjective function), fundus autofluorescence (retinal imaging), and full-field electroretinography (objective function), were performed. Next-generation sequencing (target/whole exome) and direct sequencing were conducted. Genotype grouping was performed based on the presence of deleterious variants. The median age of onset/age was 10.0 (5-52)/29.5 (12-72) years, and the median visual acuity in the right/left eye was 1.30 (0.15-2.28)/1.30 (0.15-2.28) in the logarithm of the minimum angle of resolution unit. Ten patients (10/38, 27.0%) showed confined macular dysfunction, and 27 (27/37, 73.7%) had generalized retinal dysfunction. Fifty-eight pathogenic/likely pathogenic ABCA4 variants, including 14 novel variants, were identified. Eight patients (8/35, 22.8%) harbored multiple deleterious variants, and 17 (17/35, 48.6%) had a single deleterious variant. Significant associations were revealed between subjective functional, retinal imaging, and objective functional groups, identifying a significant genotype-phenotype association. This study illustrates a large phenotypic/genotypic spectrum in a large well-characterized STGD1 cohort. A distinct genetic background of the Chinese population from the Caucasian population was identified; meanwhile, a genotype-phenotype association was similarly represented.<br /> (© 2020 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.)
- Subjects :
- Adolescent
Adult
Aged
Child
China
Female
Genotype
High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Mutation genetics
Optical Imaging
Retina pathology
Stargardt Disease diagnostic imaging
Stargardt Disease epidemiology
Stargardt Disease pathology
Visual Acuity genetics
Exome Sequencing
Young Adult
ATP-Binding Cassette Transporters genetics
Genetic Association Studies
Retina diagnostic imaging
Stargardt Disease genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4876
- Volume :
- 184
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part C, Seminars in medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 32845068
- Full Text :
- https://doi.org/10.1002/ajmg.c.31838