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RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis |
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| Authors: | Satoshi Katagiri Mineo Kondo Hideyuki Tsukitome Kazutoshi Yoshitake Masakazu Akahori |
| Affiliation: | 1. Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan,;2. Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan,;3. Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan,;4. Department of Ophthalmology, Aichi Children’s Health and Medical Center, Obu, Japan, and;5. Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan,;6. Laboratory of DNA Data Analysis, National Institute of Genetics, Shizuoka, Japan;7. Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan, |
| Abstract: | Purpose: To investigate genetic and clinical features of patients with Leber congenital amaurosis (LCA) caused by RPE65 mutations. Methods: Five Japanese families with LCA were recruited. We performed complete ophthalmic examinations, with optical coherence tomography, fundus autofluorescence imaging, and full-field electroretinography (ERG). Genetic analysis was performed with whole-exome sequencing analysis and Sanger sequencing. Results: We identified RPE65 mutations in two unrelated LCA patients from two families. Case 1: A 5-month-old girl was diagnosed with LCA because of nystagmus, loss of vision and non-recordable ERG. She was the only one affected in her non-consanguineous family, and exhibited novel compound heterozygous RPE65 mutations (c.177C>G, p.H59Q and c.183_184insT, p.D62X). Case 2: A 30-year-old woman, who had night blindness and poor ocular pursuit during the first year of life, exhibited severe retinal degeneration and non-recordable ERG. She was the only affected in her non-consanguineous family, and showed a homozygous RPE65 mutation (c.1543C>T, p.R515W). Conclusions: By using whole-exome sequencing analysis, three RPE65 mutations were identified in two Japanese patients with LCA. This approach would be useful for identification of disease-causing mutations of LCA. |
| Keywords: | Japanese Leber congenital amaurosis mutations RPE65 whole-exome sequencing |