一种伴有脑桥小脑发育不全、肌阵挛性癫痫、小头畸形和严重发育迟缓的新型INPP4A突变。

A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay.

作者信息

Özkan Kart Pınar, Citli Senol, Yildiz Nihal, Cansu Ali

机构信息

Faculty of Medicine, Department of Pediatric Neurology, Farabi Hospital, Karadeniz Technical University, Trabzon, Türkiye.

Faculty of Medicine, Department of Medical Genetics, Recep Tayyip Erdogan University, Rize, Türkiye.

出版信息

Brain Dev. 2023 May;45(5):300-305. doi: 10.1016/j.braindev.2023.01.006. Epub 2023 Feb 8.

DOI:10.1016/j.braindev.2023.01.006

PMID:36759255

Abstract

BACKGROUND

The inositol polyphosphate 4-phosphatase intracellular signaling pathway is susceptible to genetic or epigenetic alterations that may result in major neurological illnesses with clinically significant pons and cerebellum involvement.

CASE REPORTS

A seven-year-old girl with pontocerebellar hypoplasia, resistant myoclonic epilepsy with axial hypotonia, microcephaly, atypical facial appearance, nystagmus, ophthalmoplegia, hyperactive tendon reflexes, spasticity, clonus, extensor plantar response, contractures in wrists and ankles and growth retardation, whole-exome sequencing was performed and a homozygous "NM_001134225.2:c.646C > T, p.(Arg216Ter)" variant was found in the INPP4A gene.

CONCLUSION

INPP4A mutations should be kept in mind in cases with severely delayed psychomotor development, progressive microcephaly, resistant myoclonic epilepsy, isolated cerebellum, and pons involvement.

摘要

背景

肌醇多磷酸4-磷酸酶细胞内信号通路易受遗传或表观遗传改变的影响，这些改变可能导致临床上累及脑桥和小脑且具有重要意义的主要神经系统疾病。

病例报告

一名7岁女孩，患有脑桥小脑发育不全、伴有轴性肌张力低下的难治性肌阵挛癫痫、小头畸形、面容异常、眼球震颤、眼肌麻痹、腱反射亢进、痉挛、阵挛、巴宾斯基征阳性、手腕和脚踝挛缩以及生长发育迟缓，进行了全外显子测序，在INPP4A基因中发现了一个纯合的“NM_001134225.2:c.646C>T, p.(Arg216Ter)”变异。