BACKGROUND ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathogenic variant and a detailed description of their clinical course. CASE PRESENTATION Two subjects; a boy with a BLSS requiring repeated skull expansions and his mother who had been operated once for sagittal synostosis. Both developed intracranial hypertension at some point during the course, which was for both verified by formal invasive intracranial pressure monitoring. Exome sequencing revealed a pathogenic truncating frame shift variant in the ERF gene. CONCLUSIONS Here we describe a boy and his mother with different craniosynostosis patterns, but both with verified intracranial hypertension and heterozygosity for a truncating variant of ERF c.1201_1202delAA (p.Lys401Glufs*10). Our work provides supplementary evidence in support of previous phenotypic descriptions of ERF-related craniosynostosis, particularly late presentation, an evolving synostotic pattern and variable expressivity even among affected family members.

中文翻译：

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在两个与ERF相关的颅突神经病的家庭成员中进行的进展性和复杂的临床过程：病例报告。

背景与ERF相关的颅突融合症是一种罕见的，复杂的，过早的三缝融合，与广泛的临床特征和异质病因有关。在这里，我们描述了两个具有相同致病变异的病例，并详细描述了它们的临床过程。案例介绍两个主题；一个患有BLSS且需要反复扩张颅骨的男孩，他的母亲曾因矢状突触而手术过一次。两者均在病程中的某个时间发展为颅内高压，这都可以通过正式的有创颅内压监测来证实。外显子组测序揭示了ERF基因中的致病性截短移码变异。结论在这里，我们描述了一个男孩和他的母亲，颅骨突触不同，但同时证实了颅内高压和ERF c.1201_1202delAA的截短变体的杂合性（p.Lys401Glufs * 10）。我们的工作提供了补充证据，以支持以前的ERF相关颅突融合症的表型描述，尤其是后期呈现，演变的突触模式和可变表达能力，甚至在受影响的家庭成员中也是如此。