title: Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.
abstract: OBJECTIVE
  The aim of the present work was to identify and characterize large rearrangements involving the USH2A gene in patients with Usher syndrome and nonsyndromic retinitis pigmentosa.
  
  
  METHODS
  The multiplex ligation-dependent probe amplification (MLPA) technique combined with a customized array-based comparative genomic hybridization (aCGH) analysis was applied to 40 unrelated patients previously screened for point mutations in the USH2A gene in which none or only one pathologic mutation was identified.
  
  
  RESULTS
  We detected six large deletions involving USH2A in six out of the 40 cases studied. Three of the patients were homozygous for the deletion, and the remaining three were compound heterozygous with a previously identified USH2A point mutation. In five of these cases, the patients displayed Usher type 2, and the remaining case displayed nonsyndromic retinitis pigmentosa. The exact breakpoint junctions of the deletions found in USH2A in four of these cases were characterized.
  
  
  CONCLUSIONS
  Our study highlights the need to develop improved efficient strategies of mutation screening based upon next generation sequencing (NGS) that reduce cost, time, and complexity and allow simultaneous identification of all types of disease-causing mutations in diagnostic procedures.
authors.affiliation: Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria La Fe (IIS-La Fe), Valencia, Spain ; Inserm, U827, Montpellier, F-34000, France.
authors.forename: Gema
authors.initials: G
authors.lastname: García-García
authors.affiliation: Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria La Fe (IIS-La Fe), Valencia, Spain ; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Aller
authors.affiliation: Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria La Fe (IIS-La Fe), Valencia, Spain ; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Jaijo
authors.affiliation: Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria La Fe (IIS-La Fe), Valencia, Spain ; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Aparisi
authors.affiliation: CHU Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, F-34000, France.
authors.forename: Lise
authors.initials: L
authors.lastname: Larrieu
authors.affiliation: CHU Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, F-34000, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Faugère
authors.affiliation: Servicio de Genetica, IIS - Fundación Jiménez Diaz, UAM, Madrid, Spain.
authors.forename: Fiona
authors.initials: F
authors.lastname: Blanco-Kelly
authors.affiliation: CIBER de Enfermedades Raras (CIBERER), Madrid, Spain ; Servicio de Genetica, IIS - Fundación Jiménez Diaz, UAM, Madrid, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
authors.affiliation: Inserm, U827, Montpellier, F-34000, France ; CHU Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, F-34000, France.
authors.forename: Anne-Francoise
authors.initials: AF
authors.lastname: Roux
authors.affiliation: Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria La Fe (IIS-La Fe), Valencia, Spain ; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain ; Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
authors.forename: José M
authors.initials: JM
authors.lastname: Millán
mesh_terms: D000328:Adult; D001483:Base Sequence; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D017384:Sequence Deletion; D052245:Usher Syndromes / Q000235:genetics* / Q000473:pathology
chemical_list: D016326:Extracellular Matrix Proteins; C112735:USH2A protein, human