Chacón-Camacho Óscar F, Cabral-Macías Jesús, Ayala-Ramírez Raúl, Arteaga-Vázquez Jazmín, Svyryd Yevgeniya, Helmes Karla, Pérez-Hernández Nohemí, Mutchinick Osvaldo M, Zenteno Juan Carlos
Genetics Department Research Unit, Instituto de Oftalmología Conde de Valenciana, Mexico City, Mexico.
Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Rev Invest Clin. 2016 Sep-Oct;68(5):269-274.
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.
Clinical description and identification of SALL4 mutations in Mexican subjects with radial defects and Duane anomaly.
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.
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.
We observed a low frequency of SALL4 mutations in Mexican patients with clinical criteria of Okihiro syndrome.
冲弘综合征是一种常染色体显性遗传病，其特征为桡骨射线畸形，并伴有杜安异常及其他临床特征。在80%至90%的杜安-桡骨射线缺陷/冲弘综合征患者中已鉴定出SALL4基因突变。我们报告了一组患有这种疾病的墨西哥患者的临床发现及SALL4基因测序结果。
对患有桡骨缺陷和杜安异常的墨西哥受试者进行SALL4基因突变的临床描述与鉴定。
研究了5例无亲缘关系的索引病例。对所有患者进行了全面的眼科和全身检查。对基因组DNA进行SALL4基因编码外显子及内含子-外显子连接区的聚合酶链反应扩增和自动核苷酸测序。
在1例患者中鉴定出一种新的杂合缺失。SALL4基因的基因内杂合单核苷酸多态性排除了其他受影响患者某些外显子的缺失，这些患者通过桑格测序鉴定为非致病性变异。同样，多重连接依赖探针扩增分析排除了该基因的大片段缺失。
我们观察到，具有冲弘综合征临床标准的墨西哥患者中SALL4基因突变的频率较低。
