title: Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa.
abstract: In this study, we aimed to detect mutations in the SLC7A14 cationic transporter gene, which has recently been reported as a causative gene for retinitis pigmentosa (RP), in Japanese patients with autosomal recessive (AR) or sporadic RP.
  
  
  
  We included 146 unrelated Japanese patients with AR or sporadic RP who lacked mutations in genes known to be associated with RP despite next-generation sequencing-based screening. We sequenced the seven SLC7A14 coding exons along with their flanking intronic DNA using the Sanger method. The detected polymorphisms were assessed for their pathogenicity with in silico prediction tools. For those who had heterozygous, nonsynonymous variants, we performed multiplex ligation-dependent probe amplification (MLPA) to search for additional deletion/duplication.
  
  
  
  We detected four distinct SLC7A14 polymorphisms excluding synonymous polymorphisms. Two of these polymorphisms were assessed as detrimental by in silico prediction tools. However, all of the mutations were heterozygous. Neither homozygous polymorphisms nor compound heterozygous polymorphisms, which are considered detrimental variants, were detected. Neither deletion nor duplication was found with MLPA in patients with heterozygous variants.
  
  
  
  The four SLC7A14 mutations detected herein were unlikely to be pathogenic in this Japanese cohort. The frequency and pathogenicity of SLC7A14 mutations may vary depending on ethnicity, and these mutations may be rare in Japanese patients.
authors.affiliation: a Department of Ophthalmology and Visual Sciences , Kyoto University Graduate School of Medicine , Kyoto , Japan.
authors.forename: Masako
authors.initials: M
authors.lastname: Sugahara
authors.affiliation: a Department of Ophthalmology and Visual Sciences , Kyoto University Graduate School of Medicine , Kyoto , Japan.
authors.forename: Maho
authors.initials: M
authors.lastname: Oishi
authors.affiliation: a Department of Ophthalmology and Visual Sciences , Kyoto University Graduate School of Medicine , Kyoto , Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Oishi
authors.affiliation: a Department of Ophthalmology and Visual Sciences , Kyoto University Graduate School of Medicine , Kyoto , Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Ogino
authors.affiliation: a Department of Ophthalmology and Visual Sciences , Kyoto University Graduate School of Medicine , Kyoto , Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Morooka
authors.affiliation: a Department of Ophthalmology and Visual Sciences , Kyoto University Graduate School of Medicine , Kyoto , Japan.|b Center for Genomic Medicine, Kyoto University Graduate School of Medicine , Kyoto , Japan.
authors.forename: Norimoto
authors.initials: N
authors.lastname: Gotoh
authors.affiliation: b Center for Genomic Medicine, Kyoto University Graduate School of Medicine , Kyoto , Japan.
authors.forename: Inyeop
authors.initials: I
authors.lastname: Kang
authors.affiliation: a Department of Ophthalmology and Visual Sciences , Kyoto University Graduate School of Medicine , Kyoto , Japan.
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Yoshimura
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D027182:Amino Acid Transport System y+ / Q000235:genetics*; D044466:Asian People / Q000208:ethnology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012174:Retinitis Pigmentosa / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
chemical_list: D027182:Amino Acid Transport System y+; C000593182:SLC7A14 protein, human
keywords: MLPA; SLC7A14; Sanger sequencing; retinitis pigmentosa