Sallum, JMF;
Motta, FL;
Arno, G;
Porto, FBO;
Resende, RG;
Belfort, R;
(2020)
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
, 184
(3)
pp. 728-752.
10.1002/ajmg.c.31828.
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Abstract
Leber congenital amaurosis (LCA) and early‐onset retinal dystrophy (EORD) are severe inherited retinal dystrophy that can cause deep blindness childhood. They represent 5% of all retinal dystrophies in the world population and about 10% in Brazil. Clinical findings and molecular basis of syndromic and nonsyndromic LCA/EORD in a Brazilian sample (152 patients/137 families) were studied. In this population, 15 genes were found to be related to the phenotype, 38 new variants were detected and four new complex alleles were discovered. Among 123 variants found, the most common were CEP290: c.2991+1655A>G, CRB1: p.Cys948Tyr, and RPGRIP1: exon10‐18 deletion.
| Type: | Article |
|---|---|
| Title: | Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/ajmg.c.31828 |
| Publisher version: | https://doi.org/10.1002/ajmg.c.31828 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
| Keywords: | causal genes, childhood blindness, early-onset retinal dystrophy (EORD), genotype-phenotype, Leber congenital amaurosis (LCA), pathogenic variants |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10112539 |
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