A rare developmental delay (DD)/intellectual disability (ID) syndrome with craniofacial dysmorphisms and autistic features, termed White–Sutton syndrome (WHSUS, MIM#614787), has been recently described, identifying truncating mutations in the chromatin regulator POGZ (KIAA0461, MIM#614787). We describe a further WHSUS patient harboring a novel nonsense de novo POGZ variant, which afflicts a protein domain with transposase activity less frequently impacted by mutational events (DDE domain). This patient displays additional physical and behavioral features, these latter mimicking Smith–Magenis syndrome (SMS, MIM#182290). Considering sleep–wake cycle anomalies and abnormal behavior manifested by this boy, we reinforced the clinical resemblance between WHSUS and SMS, being both chromatinopathies. In addition, using the DeepGestalt technology, we identified a different facial overlap between WHSUS patients with mutations in the DDE domain (Group 1) and individuals harboring variants in other protein domains/regions (Group 2). This report further delineates the clinical and molecular repertoire of the POGZ ‐related phenotype, adding a novel patient with uncommon clinical and behavioral features and provides the first computer‐aided facial study of WHSUS patients.

中文翻译：

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一位患有 White-Sutton 综合征的新患者改进了 POGZ 相关表型的突变和临床库，并提出了进一步的观察。

最近描述了一种罕见的具有颅面畸形和自闭症特征的发育迟缓 (DD)/智力障碍 (ID) 综合征，称为 White-Sutton 综合征 (WHSUS, MIM#614787)，鉴定了染色质调节剂POGZ (KIAA0461, MIM#614787)。我们描述了另一位 WHSUS 患者，该患者怀有一种新的废话从头 POGZ变体，其影响具有较少受突变事件影响的转座酶活性的蛋白质结构域（DDE 结构域）。该患者表现出额外的身体和行为特征，后者模仿 Smith-Magenis 综合征（SMS，MIM#182290）。考虑到这个男孩表现出的睡眠-觉醒周期异常和异常行为，我们加强了 WHSUS 和 SMS 之间的临床相似性，两者都是染色质病变。此外，使用 DeepGestalt 技术，我们确定了在 DDE 域（第 1 组）中具有突变的 WHSUS 患者与在其他蛋白质域/区域中具有变异的个体（第 2 组）之间存在不同的面部重叠。该报告进一步描述了POGZ的临床和分子库- 相关表型，增加了一个具有不常见临床和行为特征的新患者，并提供了第一个 WHSUS 患者的计算机辅助面部研究。