A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review

Frontiers in Pediatrics

article

Yuanzhen Ye¹  Zhanqi Hu¹  Jiahui Mai¹  Li Chen¹  Dezhi Cao¹  Jianxiang Liao¹  Jing Duan¹ 

[1] Department of Neurology, Shenzhen Children's Hospital

关键词: PUM1;    Dravet syndrome;    epilepsy;    developmental disability;    ataxia;    ptosis;   

DOI  :  10.3389/fped.2022.759889

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

In the recent 3 years, subjects with Pumilio1-associated developmental disability, ataxia, and seizure syndrome have been identified as harboring Pumilio homolog 1 (PUM1) mutations. However, the characteristics of the seizure phenotype remain to be elucidated. We herein described a 3-year-old female proband who was diagnosed with developmental and epileptic encephalopathy presenting with some features suggestive of a Dravet-like syndrome. For genetic analyses, trio-based whole-exome sequencing and array comparative genomic hybridization were performed. Consequently, a de novo heterozygous missense variant was identified in exon 22 of the PUM1 gene: NM_001020658: c.3439C > T (p.Arg1147Trp). Upon thoroughly reviewing the existing literature, nine cases of PUM1 mutation-related epilepsy were identified, and their clinical features were summarized. A relationship between PUM1 mutation and clinical manifestations characteristic of a Dravet-like syndrome was proposed. To our knowledge, this is the first report of a patient with PUM1 mutation presenting with a Dravet-like syndrome.

【 授权许可】

CC BY