title: Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.
abstract: BACKGROUND
  Okihiro syndrome is an autosomal-dominant condition characterized by radial ray malformations associated with Duane anomaly and other clinical characteristics. SALL4 mutations have been identified in 80-90% of patients with Duane- Radial ray defects/Okihiro syndrome. We report the clinical findings and results of SALL4 sequencing from a group of Mexican patients with this disorder.
  
  
  OBJECTIVE
  Clinical description and identification of SALL4 mutations in Mexican subjects with radial defects and Duane anomaly.
  
  
  METHODS
  Five unrelated index cases were studied. Complete ophthalmologic and general physical examination was performed in all patients. Polymerase chain reaction amplification and automated nucleotide sequencing of coding exons and intron-exon junctions of SALL4 gene were carried out in genomic DNA.
  
  
  RESULTS
  A novel heterozygous deletion was identified in one patient. Intragenic heterozygous single nucleotide polymorphisms on SALL4 gene ruled out deletions of some exons in other affected patients in whom non-pathogenic variants were identified by Sanger sequencing. Likewise, multiplex ligation-dependent probe amplification analysis ruled out large deletions in this gene.
  
  
  CONCLUSIONS
  We observed a low frequency of SALL4 mutations in Mexican patients with clinical criteria of Okihiro syndrome.
authors.affiliation: Genetics Department Research Unit, Instituto de Oftalmología Conde de Valenciana, Mexico City, Mexico.
authors.forename: Óscar F
authors.initials: ÓF
authors.lastname: Chacón-Camacho
authors.affiliation: Genetics Department Research Unit, Instituto de Oftalmología Conde de Valenciana, Mexico City, Mexico.
authors.forename: Jesús
authors.initials: J
authors.lastname: Cabral-Macías
authors.affiliation: Genetics Department Research Unit, Instituto de Oftalmología Conde de Valenciana, Mexico City, Mexico.
authors.forename: Raúl
authors.initials: R
authors.lastname: Ayala-Ramírez
authors.affiliation: Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
authors.forename: Jazmín
authors.initials: J
authors.lastname: Arteaga-Vázquez
authors.affiliation: Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
authors.forename: Yevgeniya
authors.initials: Y
authors.lastname: Svyryd
authors.affiliation: Centro de Rehabilitación Infantil Teletón, Oaxaca, Oax, Mexico.
authors.forename: Karla
authors.initials: K
authors.lastname: Helmes
authors.affiliation: Centro de Rehabilitación Infantil Teletón, Oaxaca, Oax, Mexico.
authors.forename: Nohemí
authors.initials: N
authors.lastname: Pérez-Hernández
authors.affiliation: Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
authors.forename: Osvaldo M
authors.initials: OM
authors.lastname: Mutchinick
authors.affiliation: Genetics Department Research Unit, Instituto de Oftalmología Conde de Valenciana, Mexico City, Mexico.|Department of Biochemistry, Faculty of Medicine, Universidad Nacional Autónoma de México, Mexico City, Mexico.
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D004370:Duane Retraction Syndrome / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007438:Introns; D008297:Male; D008800:Mexico; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C472575:SALL4 protein, human; D014157:Transcription Factors