title: The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
abstract: Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease. The USH2A gene, which accounts for approximately 74-90% of Usher syndrome type 2 (USH2) cases, is also one of the major autosomal recessive RP (arRP) causative genes among Caucasian populations. To identify disease-causing USH2A gene mutations in Japanese RP patients, all 73 exons were screened for mutations by direct sequencing. In total, 100 unrelated Japanese RP patients with no systemic manifestations were identified, excluding families with obvious autosomal dominant inheritance. Of these 100 patients, 82 were included in this present study after 18 RP patients with very likely pathogenic EYS (eyes shut homolog) mutations were excluded. The mutation analysis of the USH2A revealed five very likely pathogenic mutations in four patients. A patient had only one very likely pathogenic mutation and the others had two of them. Caucasian frequent mutations p.C759F in arRP and p.E767fs in USH2 were not found. All the four patients exhibited typical clinical features of RP. The observed prevalence of USH2A gene mutations was approximately 4% among Japanese arRP patients, and the profile of the USH2A gene mutations differed largely between Japanese patients and previously reported Caucasian populations.
authors: 1] Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan [2] Department of Photomedical Genomics, Basic Medical Photonics Laboratory, Medical Photonics Research Center, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Yang
authors: Y
authors: Zhao
authors: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Katsuhiro
authors: K
authors: Hosono
authors: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Kimiko
authors: K
authors: Suto
authors: Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, Kobe, Japan.
authors: Chie
authors: C
authors: Ishigami
authors: Department of Ophthalmology, Institute of Biomedical Research and Innovation Hospital, Kobe, Japan.
authors: Yuuki
authors: Y
authors: Arai
authors: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Akiko
authors: A
authors: Hikoya
authors: Department of Ophthalmology, Institute of Biomedical Research and Innovation Hospital, Kobe, Japan.
authors: Yasuhiko
authors: Y
authors: Hirami
authors: Department of Photomedical Genomics, Basic Medical Photonics Laboratory, Medical Photonics Research Center, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Masafumi
authors: M
authors: Ohtsubo
authors: Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors: Shinji
authors: S
authors: Ueno
authors: Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors: Hiroko
authors: H
authors: Terasaki
authors: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Miho
authors: M
authors: Sato
authors: Department of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Hiroshi
authors: H
authors: Nakanishi
authors: Department of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Shiori
authors: S
authors: Endo
authors: Department of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Kunihiro
authors: K
authors: Mizuta
authors: Department of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Hiroyuki
authors: H
authors: Mineta
authors: Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan.
authors: Mineo
authors: M
authors: Kondo
authors: Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, Kobe, Japan.
authors: Masayo
authors: M
authors: Takahashi
authors: Department of Photomedical Genomics, Basic Medical Photonics Laboratory, Medical Photonics Research Center, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Shinsei
authors: S
authors: Minoshima
authors: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Yoshihiro
authors: Y
authors: Hotta
mesh_terms: D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012174:Retinitis Pigmentosa / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D052245:Usher Syndromes / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D016326:Extracellular Matrix Proteins; C112735:USH2A protein, human