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Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2016, Number 5

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Rev Invest Clin 2016; 68 (5)

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

Chacón-Camacho ÓF, Cabral-Macías J, Ayala-Ramírez R, Arteaga-Vázquez J, Svyryd Y, Helmes K, Pérez-Hernández N, Mutchinick OM, Zenteno JC

Language: English
References: 18
Page: 269-274
PDF size: 554.81 Kb.


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. 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)


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