Evidence map›Paper›PMID 37584787›Full record

ArticleNeurogenetics2023

Clinical and functional study of two de novo variations of CDKL5 gene.

Yang You, Xinyi Men, Wenjuan Wu, Shan Liu, Xuexin He, Suzhen Sun, Xiuxia Wang, Baoguang Li

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In one paragraph

Article in Neurogenetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Yang YouDepartment of Imaging, The Fourth Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China.
Xinyi MenDepartment of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China.
Wenjuan WuDepartment of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, 133 Jianhua Nan Street, Shijiazhuang, 050031, Hebei, China.
Shan LiuDepartment of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, 133 Jianhua Nan Street, Shijiazhuang, 050031, Hebei, China.
Xuexin HeDepartment of Rehabilitation, Shijiazhuang Hospital of Traditional Chinese Medicine, 233 Zhongshan Road, Shijiazhuang, Hebei, 050000, China.
Suzhen SunDepartment of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, 133 Jianhua Nan Street, Shijiazhuang, 050031, Hebei, China.
Xiuxia WangDepartment of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China. Xiuxiawang20221215@163.com.
Baoguang LiDepartment of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, 133 Jianhua Nan Street, Shijiazhuang, 050031, Hebei, China. 317491448@qq.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The cyclin-dependent kinase like 5 (CDKL5) gene variation is X-linked dominant and is associated with type 2 developmental and epileptic encephalopathy (DEE). Although numerous cases of CDKL5 have been reported, there is limited discussion regarding functional verification. We described two children with DEE caused by de novo variations of CDKL5 gene, analyzed their clinical manifestations, and performed genetic testing on their gene variation sites. The two cases presented with tonic seizures followed by epileptic spasms, indicative of refractory epilepsy. Physical examination revealed abnormal facial features, including wide eye distance, low nose base, and high nose bridge. Both cases exhibited developmental disabilities. Cranial magnetic resonance imaging (MRI) showed widening of the bilateral frontotemporal extracerebral space. Genetic testing identified variations at the gene sites c.463 + 4A > G (splicing) and c.1854_1861delCAAAGTGA (p.D618Efs*18). Minigene experiments further confirmed that the intronic variation c.463 + 4A > G (splicing) disrupted splicing, leading to protein truncation. CDKL5 gene variation can lead to DEE, and intron variation site c.463 + 4A > G (splicing) can cause protein truncation, which is a pathogenic variation.

Indexed as

Protein Serine-Threonine KinasesSpasms, InfantileChild, PreschoolDevelopmental DisabilitiesEpileptic SyndromesFemaleHumansMagnetic Resonance ImagingMutationCDKL5 protein, humanProtein Serine-Threonine KinasesCDKL5 geneDevelopmental and epileptic encephalopathyIntron variation

Identifiers

PMID37584787

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