title: Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
abstract: OBJECTIVE
  To identify the genetic defect in Spanish families with Usher syndrome (USH) and probable involvement of the CLRN1 gene.
  
  
  METHODS
  DNA samples of the affected members of our cohort of USH families were tested using an USH genotyping array, and/or genotyped with polymorphic markers specific for the USH3A locus. Based on these previous analyses and clinical findings, CLRN1 was directly sequenced in 17 patients susceptible to carrying mutations in this gene.
  
  
  RESULTS
  Microarray analysis revealed the previously reported mutation p.Y63X in two unrelated patients, one of them homozygous for the mutation. After CLRN1 sequencing, we found two novel mutations, p.R207X and p.I168N. Both novel mutations segregated with the phenotype.
  
  
  CONCLUSIONS
  To date, 18 mutations in CLRN1 have been reported. In this work, we report two novel mutations and a third one previously identified in the Spanish USH sample. The prevalence of CLRN1 among our patients with USH is low.
authors.affiliation: Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria IIS - La Fe, Valencia, Spain.
authors.forename: Gema
authors.initials: G
authors.lastname: García-García
authors.forename: María J
authors.initials: MJ
authors.lastname: Aparisi
authors.forename: Regina
authors.initials: R
authors.lastname: Rodrigo
authors.forename: María D
authors.initials: MD
authors.lastname: Sequedo
authors.forename: Carmen
authors.initials: C
authors.lastname: Espinós
authors.forename: Jordi
authors.initials: J
authors.lastname: Rosell
authors.forename: José L
authors.initials: JL
authors.lastname: Olea
authors.forename: M Paz
authors.initials: MP
authors.lastname: Mendívil
authors.forename: María A
authors.initials: MA
authors.lastname: Ramos-Arroyo
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
authors.forename: Teresa
authors.initials: T
authors.lastname: Jaijo
authors.forename: Elena
authors.initials: E
authors.lastname: Aller
authors.forename: José M
authors.initials: JM
authors.lastname: Millán
mesh_terms: D000328:Adult; D001483:Base Sequence; D005091:Exons; D005260:Female; D056426:Genetic Loci; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D010641:Phenotype; D013030:Spain; D052245:Usher Syndromes / Q000235:genetics*; D058609:Visual Field Tests; D044465:White People
chemical_list: C437067:CLRN1 protein, human; D008565:Membrane Proteins