Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome

• Autores: Óscar Francisco Chacón Camacho, Jesús Cabral Macías, Raúl Ayala Ramírez, Jazmín Arteaga Vázquez, Yevgeniya Svyryd, Karla Helmes, Nohemí Pérez Hernández, Osvaldo M. Mutchinick, Juan Carlos Zenteno
• Localización: Revista de investigación clínica, ISSN 0034-8376, ISSN-e 2564-8896, Vol. 68, Nº. 5, 2016, págs. 269-274
• Idioma: inglés
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• Resumen

  • 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 DuaneRadial 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. Materials and 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. Conclusion:

    We observed a low frequency of SALL4 mutations in Mexican patients with clinical criteria of Okihiro syndrome. (Rev Inves ClIn.

    2016;68:269-74)