Cornelia de Lange syndrome (CDLS) is a clinically and genetically heterogeneous developmental disorder characterized by multiple malformations. Primarily, affected individuals have unique and recognizable dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. However, also milder, as well as slightly phenotypically different forms exist. We described herein a patient with CDLS5, an X-linked form, caused by mutations in the HDAC8 gene inherited form the mosaic mother. Analysis of results from whole exome sequencing identified two variants with possible impact on the phenotype. Of them, hemizygous variant (c.938G>A, p.Arg313Gln) inherited from the mosaic mother, was further proved to lead to disease in the proband. Our intention was to delineate this syndrome but also point out the clinical course of the disease, which only in combination with a facial phenotype allow for verification of exome sequencing result.

中文翻译：

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HDAC8基因的新型变异导致严重的Cornelia de Lange表型。

Cornelia de Lange综合征（CDLS）是一种临床和遗传上异质的发育障碍，其特征是多种畸形。首先，受影响的个体具有独特且可识别的畸形面部特征，left裂，远端肢体缺损，发育迟缓和发育延迟。但是，也存在较温和的以及在表型上稍有不同的形式。我们在本文中描述了患有CDLS5（一种X连锁形式）的患者，该患者是由镶嵌妈妈遗传的HDAC8基因突变引起的。对整个外显子组测序结果的分析确定了可能对表型有影响的两个变体。其中，从镶嵌母体遗传的半合子变异体（c.938G> A，p.Arg313Gln）被进一步证明可导致先证者患病。