Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy
by
Fernanda B. O. Porto 1,2
, Evan M. Jones 3,4, Justin Branch 4, Zachry T. Soens 3,4, Igor Mendes Maia 5, Isadora F. G. Sena 5, Shirley A. M. Sampaio 1, Renata T. Simões 5 and Rui Chen 3,4,6,*
Fernanda B. O. Porto 1,2, Evan M. Jones 3,4, Justin Branch 4, Zachry T. Soens 3,4, Igor Mendes Maia 5, Isadora F. G. Sena 5, Shirley A. M. Sampaio 1, Renata T. Simões 5 and Rui Chen 3,4,6,*
1
INRET Clínica e Centro de Pesquisa, Belo Horizonte, 30150290 Minas Gerais, Brazil
2
Centro Oftalmológico de Minas Gerais, COMG, Belo Horizonte, 30150290 Minas Gerais, Brazil
3
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
4
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
5
Instituto de Ensino e Pesquisa da Santa Casa de Belo Horizonte, IEP/SCBH, Belo Horizonte, 30150290 Minas Gerais, Brazil
6
Structural and Computational Biology & Molecular Biophysics, Baylor College of Medicine, Houston, TX 77030, USA
*
Author to whom correspondence should be addressed.
Genes 2017, 8(12), 355; https://doi.org/10.3390/genes8120355
Received: 29 August 2017 / Revised: 20 November 2017 / Accepted: 21 November 2017 / Published: 29 November 2017
(This article belongs to the Special Issue Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations and Inheritance Models)
Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due to the clinical and genetic heterogeneity among LCA and other retinal diseases, providing patients with a molecular diagnosis is essential to assigning an accurate clinical diagnosis. Using our gene panel that targets 300 genes that are known to cause retinal disease, including 24 genes reported to cause LCA, we sequenced 43 unrelated probands with Brazilian ancestry. We identified 42 unique variants and were able to assign a molecular diagnosis to 30/43 (70%) Brazilian patients. Among these, 30 patients were initially diagnosed with LCA or a form of early-onset retinal dystrophy, 17 patients harbored mutations in LCA-associated genes, while 13 patients had mutations in genes that were reported to cause other diseases involving the retina.
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Keywords:
retina; genetics; ophthalmology; Leber congenital amaurosis; early-onset retinal dystrophy; next-generation sequencing
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MDPI and ACS Style
Porto, F.B.O.; Jones, E.M.; Branch, J.; Soens, Z.T.; Maia, I.M.; Sena, I.F.G.; Sampaio, S.A.M.; Simões, R.T.; Chen, R. Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. Genes 2017, 8, 355.
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