| Revista: | Revista de investigación clínica |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000455314 |
| ISSN: | 0034-8376 |
| Autores: | Chacón Camacho, Oscar F1 Cabral Macias, Jesús1 Ayala Ramírez, Raúl1 Arteaga Vázquez, Jazmin2 Svyryd, Yevgeniya2 Helmes, Karla3 Pérez Hernández, Nohemí3 Mutchinick, Osvaldo M2 Zenteno, Juan Carlos1 |
| Instituciones: | 1Instituto de Oftalmología "Fundación Conde de Valenciana", Departamento de Genética, Ciudad de México. México 2Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Departamento de Genética, Ciudad de México. México 3Centro de Rehabilitación Infantil Teletón, Oaxaca. México |
| Año: | 2016 |
| Periodo: | Sep-Oct |
| Volumen: | 68 |
| Número: | 5 |
| Paginación: | 269-274 |
| País: | México |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico, descriptivo |
| Resumen en inglés | 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 |
| Disciplinas: | Medicina |
| Palabras clave: | Genética, Oftalmología, Anomalía de Duane, Síndrome de Okihiro, Estrabismo, Herencia autosómica dominante |
| Keyword: | Genetics, Ophthalmology, Duane anomaly, Okihiro syndrome, Strabismus, Dominant autosomal inheritance |
| Texto completo: | https://www.medigraphic.com/pdfs/revinvcli/nn-2016/nn165g.pdf |
