Search

Your search keyword '"Masaaki Furuno"' showing total 2 results
Start Over Author "Masaaki Furuno" Journal plos one
2 results on '"Masaaki Furuno"'

1. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

Author

Satoshi Katagiri, Masakazu Akahori, Yuri Sergeev, Kazutoshi Yoshitake, Kazuho Ikeo, Masaaki Furuno, Takaaki Hayashi, Mineo Kondo, Shinji Ueno, Kazushige Tsunoda, Kei Shinoda, Kazuki Kuniyoshi, Yohinori Tsurusaki, Naomichi Matsumoto, Hiroshi Tsuneoka, and Takeshi Iwata

Subjects
Medicine, Science
Abstract

OBJECTIVE:The purpose of this study was to investigate frequent disease-causing gene mutations in autosomal recessive retinitis pigmentosa (arRP) in the Japanese population. METHODS:In total, 99 Japanese patients with non-syndromic and unrelated arRP or sporadic RP (spRP) were recruited in this study and ophthalmic examinations were conducted for the diagnosis of RP. Among these patients, whole exome sequencing analysis of 30 RP patients and direct sequencing screening of all CNGA1 exons of the other 69 RP patients were performed. RESULTS:Whole exome sequencing of 30 arRP/spRP patients identified disease-causing gene mutations of CNGA1 (four patients), EYS (three patients) and SAG (one patient) in eight patients and potential disease-causing gene variants of USH2A (two patients), EYS (one patient), TULP1 (one patient) and C2orf71 (one patient) in five patients. Screening of an additional 69 arRP/spRP patients for the CNGA1 gene mutation revealed one patient with a homozygous mutation. CONCLUSIONS:This is the first identification of CNGA1 mutations in arRP Japanese patients. The frequency of CNGA1 gene mutation was 5.1% (5/99 patients). CNGA1 mutations are one of the most frequent arRP-causing mutations in Japanese patients.

Published
2014
Full Text
View/download PDF

2. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa

Author

Kei Shinoda, Shinji Ueno, Yuri V. Sergeev, Naomichi Matsumoto, Kazuki Kuniyoshi, Masakazu Akahori, Yohinori Tsurusaki, Masaaki Furuno, Kazushige Tsunoda, Mineo Kondo, Takeshi Iwata, Satoshi Katagiri, Hiroshi Tsuneoka, Takaaki Hayashi, Kazuho Ikeo, and Kazutoshi Yoshitake

Subjects
Oncology, Male, Mutation rate, Genetic Screens, genetic structures, Gene Identification and Analysis, lcsh:Medicine, Gene mutation, medicine.disease_cause, Mutation Rate, Medicine and Health Sciences, Exome, lcsh:Science, Frameshift Mutation, Exome sequencing, Genetics, Mutation, Extracellular Matrix Proteins, Multidisciplinary, Insertion Mutation, Homozygote, Retinal Degeneration, High-Throughput Nucleotide Sequencing, Nonsense Mutation, Exons, Middle Aged, Germline Mutation, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Retinal Disorders, Female, Retinitis Pigmentosa, Research Article, Adult, medicine.medical_specialty, Missense Mutation, Molecular Sequence Data, Cyclic Nucleotide-Gated Cation Channels, Genes, Recessive, Biology, Frameshift mutation, Asian People, Genetic Disorders, Internal medicine, Retinitis pigmentosa, medicine, Humans, Point Mutation, Inherited Eye Disorders, Eye Proteins, Genetic Association Studies, Aged, Base Sequence, Haplotype, lcsh:R, Retinitis, Biology and Life Sciences, Human Genetics, medicine.disease, eye diseases, Ophthalmology, Genetics of Disease, lcsh:Q, Gene Deletion
Abstract

Objective The purpose of this study was to investigate frequent disease-causing gene mutations in autosomal recessive retinitis pigmentosa (arRP) in the Japanese population. Methods In total, 99 Japanese patients with non-syndromic and unrelated arRP or sporadic RP (spRP) were recruited in this study and ophthalmic examinations were conducted for the diagnosis of RP. Among these patients, whole exome sequencing analysis of 30 RP patients and direct sequencing screening of all CNGA1 exons of the other 69 RP patients were performed. Results Whole exome sequencing of 30 arRP/spRP patients identified disease-causing gene mutations of CNGA1 (four patients), EYS (three patients) and SAG (one patient) in eight patients and potential disease-causing gene variants of USH2A (two patients), EYS (one patient), TULP1 (one patient) and C2orf71 (one patient) in five patients. Screening of an additional 69 arRP/spRP patients for the CNGA1 gene mutation revealed one patient with a homozygous mutation. Conclusions This is the first identification of CNGA1 mutations in arRP Japanese patients. The frequency of CNGA1 gene mutation was 5.1% (5/99 patients). CNGA1 mutations are one of the most frequent arRP-causing mutations in Japanese patients.

Published
2014

Catalog

Books, media, physical & digital resources
See catalog results