Abstract
Foveal hypoplasia is the major cause of visual loss. Here we report an isolated foveal hypoplasia patient without nystagmus. It is very rare, and its etiology is not completely understood. Using whole-exome sequencing and foveal hypoplasia-related gene filtering from a family with two generations, we identified a novel variant c.859T>C (p.S287P) and a rare non-frameshift variant c.229_230insGGG (p.Arg77_Glu78insGly) in the tyrosinase (TYR) gene that co-segregated in the affected member of this family. The compound heterozygous variants inherited in the proband were confirmed by Sanger sequencing and predicted from in silico studies to have an effect on protein function. In conclusion, our finding extends the spectrum of TYR variants and supports the important role of TYR in the development of eyes.
MeSH terms
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Amino Acid Sequence
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Angiography / methods
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Child
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Computer Simulation
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Exome Sequencing
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Eye / embryology
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Eye Diseases, Hereditary / diagnostic imaging
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Eye Diseases, Hereditary / genetics*
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Female
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Fovea Centralis / abnormalities*
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Fovea Centralis / diagnostic imaging
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Heterozygote
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Humans
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Hydrophobic and Hydrophilic Interactions
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Male
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Models, Molecular
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Monophenol Monooxygenase / chemistry
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Monophenol Monooxygenase / genetics*
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Mutagenesis, Insertional*
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Mutation, Missense*
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Nystagmus, Congenital / diagnostic imaging
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Nystagmus, Congenital / genetics*
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Pedigree
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Point Mutation*
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Proline / chemistry
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Protein Conformation
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Sequence Alignment
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Sequence Analysis, DNA
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Sequence Homology, Amino Acid
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Structure-Activity Relationship
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Tomography, Optical Coherence
Substances
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Proline
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Monophenol Monooxygenase
Supplementary concepts
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Foveal Hypoplasia, Isolated