Background

Heterozygous mutations in the PACS1 gene have been shown to cause Schuurs-Hoeijmakers syndrome, a rare condition characterized by intellectual disability and peculiar facial dysmorphisms. To date, 52 cases have been reported (49 postnatally and 3 prenatally diagnosed). Case report: We describe a child carrying the recurrent PACS1 c.607C>A variant; besides the typical neurodevelopmental and physical features of the condition, he also showed previously unreported cerebellar and ocular findings.

Conclusions

Our findings expand the clinical and neuroimaging presentation of Schuurs-Hoeijmakers syndrome and confirm the power of “genotype first” approach in patients with syndromic phenotypes. We also suggest a role for PACS1 in influencing cerebellar and ocular development.

中文翻译：

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Schuurs-Hoeijmakers 综合征：复发性 PACS1 c.607C>T 突变的严重表达

 背景

PACS1基因的杂合突变已被证明会导致 Schuurs-Hoeijmakers 综合征，这是一种以智力障碍和特殊面部畸形为特征的罕见疾病。迄今为止，已报告 52 例病例（49 例产后诊断，3 例产前诊断）。病例报告：我们描述了一名携带复发性PACS1 c.607C>A 变异的儿童；除了该病的典型神经发育和身体特征外，他还表现出以前未报道的小脑和眼部发现。

 结论

我们的研究结果扩展了 Schuurs-Hoeijmakers 综合征的临床和神经影像学表现，并证实了“基因型优先”方法对综合征表型患者的功效。我们还提出了PACS1在影响小脑和眼部发育中的作用。