Basel-Vanagaite-Smirin-Yosef syndrome (OMIM 616449) is a rare autosomal recessive genetic disorder characterized by severe developmental delay and variable craniofacial, neurological, cardiac, and ocular anomalies in the presence of variants in the MED25 gene. So far, only a handful of patients have been reported with this condition globally. Here, we report an additional Lebanese family with 2 affected siblings presenting with severely delayed psychomotor and language development as well as craniofacial anomalies. By whole-exome sequencing (WES), a homozygous variant was found in the MED25 gene, c.518T>C, predicted to result in a p.Ile173Thr change in the MED25 protein. This change has recently been reported in another Lebanese family. Review of the literature, the importance of this mutation in the Lebanese population, and the possibility that this condition may be underdiagnosed and only effectively detected using molecular techniques such as WES are discussed.

中文翻译：

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黎巴嫩第二个巴塞尔-瓦纳加特-史密林-约瑟夫综合征的家庭报告：可能的创始人突变。

巴塞尔-瓦纳加特-史密林-约瑟夫综合症（OMIM 616449）是一种罕见的常染色体隐性遗传疾病，其特征为严重的发育延迟以及存在MED25基因变异的严重颅面，神经，心脏和眼部异常。迄今为止，全球仅报告了少数患者患有这种疾病。在这里，我们报告了另外一个黎巴嫩家庭，其中有2个受影响的兄弟姐妹出现了严重的精神运动和语言发育以及颅面异常。通过全外显子测序（WES），在MED25基因中发现了一个纯合变异，c.518T> C，预计将导致MED25蛋白的p.Ile173Thr改变。最近在另一个黎巴嫩家庭中报告了这一变化。文献回顾，这种突变在黎巴嫩人口中的重要性，