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DeSanto-Shinawi Syndrome: First Case in South America

机译：DeSanto-Shinawi综合征：南美首例

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摘要

Pathogenic variants in iWAC/i are uncommon causes of developmental delay and neurobehavioral phenotypes. The clinical features associated with iWAC /ihaploinsufficiency include recognizable dysmorphic facial features that were recently delineated as DeSanto-Shinawi syndrome (DESSH; OMIM 616708). Additional clinical features include hypotonia, hearing and vision abnormalities, gastrointestinal problems, and behavioral difficulties. Here, we report a case of a 4-year-old Colombian male patient with typical dysmorphic facial features, developmental delay, hyperactivity, and recurrent respiratory infections. His immune workup revealed hypogammaglobulinemia, and clinical exome sequencing revealed a novel intronic variant in iWAC/i (c.1437+1GA). To the best of our knowledge, this is the first case of DESSH in South America, underlining the accumulating evidence of the significant role of iWAC/i haploinsufficiency in neurobehavioral phenotypes. Although this report suggested the potential involvement of iWAC/i in immune regulation, additional reports are required to confirm our observations.
机译：WAC 中的致病变体是发育迟缓和神经行为表型的罕见原因。与 WAC 单倍体功能不全相关的临床特征包括可识别的畸形面部特征，最近被描述为DeSanto-Shinawi综合征（DESSH; OMIM 616708）。其他临床特征包括肌张力低下，听力和视力异常，胃肠道问题和行为困难。在这里，我们报道了一名4岁的哥伦比亚男性患者，该患者典型的面部畸形，发育迟缓，活动过度和反复呼吸道感染。他的免疫检查发现存在低球蛋白血症，临床外显子组测序显示了 WAC （c.1437 + 1G> A）中的一种新型内含子。据我们所知，这是南美地区首例DESSH病例，突显了 WAC 单倍体功能不足在神经行为表型中的重要作用的越来越多的证据。尽管此报告表明 WAC 可能参与了免疫调节，但还需要其他报告来证实我们的观察结果。

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