两名 ERF 相关颅缝早闭症家系成员的进行性和复杂性临床病程：病例报告。
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
机构信息
Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.
Department of Surgical Sciences, Plastic Surgery, Uppsala University, Uppsala, Sweden.
出版信息
BMC Med Genet. 2020 May 5;21(1):90. doi: 10.1186/s12881-020-01015-z.
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.
背景
ERF 相关颅缝早闭是一种罕见的、复杂的、三颅缝过早融合，与广泛的临床特征和异质性病因相关。在这里，我们描述了两例具有相同致病变异的病例，并详细描述了他们的临床病程。
病例介绍
两名受试者；一名男孩患有 BLSS，需要多次颅骨扩张，其母亲曾因矢状缝早闭接受过一次手术。在病程中的某个时候，两人都出现了颅内压升高，这两人的颅内压都通过正式的侵入性颅内压监测得到了证实。外显子组测序显示 ERF 基因存在一个致病性移码框突变。
结论
在这里，我们描述了一个男孩和他的母亲，他们具有不同的颅缝早闭模式，但都有明确的颅内压升高和 ERF 基因 c.1201_1202delAA(p.Lys401Glufs*10)截断变异的杂合性。我们的工作提供了补充证据，支持了以前对 ERF 相关颅缝早闭的表型描述，特别是晚发、不断演变的颅缝早闭模式和即使在受影响的家庭成员中也存在可变表达。
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