文献类型：期刊文献

英文题名：Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B

作者：Li, Danyang[1,2];Zhou, Bingbo[1];Tian, Xinyuan[1,2];Chen, Xue[1];Wang, Yupei[1];Hao, Shengju[1];Zhang, Chuan[1,3];Hui, Ling[1,2,3]

第一作者：Li, Danyang

通信作者：Zhang, C[1];Hui, L[1]

机构：[1]Gansu Prov Matern & Child Care Hosp, Gansu Prov Clin Res Ctr Birth Defects & Rare Dis, Med Genet Ctr, Lanzhou, Gansu, Peoples R China;[2]Gansu Univ Tradit Chinese Med, Sch Publ Hlth, Lanzhou, Gansu, Peoples R China;[3]Gansu Prov Matern & Child Care Hosp, Med Genet Ctr, Gansu Prov Clin Res Ctr Birth Defects & Rare Dis, Lanzhou 730050, Gansu, Peoples R China

第一机构：Gansu Prov Matern & Child Care Hosp, Gansu Prov Clin Res Ctr Birth Defects & Rare Dis, Med Genet Ctr, Lanzhou, Gansu, Peoples R China

通信机构：[1]corresponding author), Gansu Prov Matern & Child Care Hosp, Med Genet Ctr, Gansu Prov Clin Res Ctr Birth Defects & Rare Dis, Lanzhou 730050, Gansu, Peoples R China.

年份：2024

卷号：12

期号：1

外文期刊名：MOLECULAR GENETICS & GENOMIC MEDICINE

收录：;Scopus(收录号：2-s2.0-85178423815);WOS:【SCI-EXPANDED(收录号:WOS:001111474800001)】；

基金：The authors are grateful to the patients and the pedigree members who participated in this study.

语种：英文

外文关键词：CNV-seq; CSNK2B; epilepsy; frameshift variant; Poirier-Bienvenu neurodevelopmental syndrome; WES

摘要：Background: Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare autosomal dominant neurologic disorder caused by a heterozygous variant of CSNK2B, which is characterized by early onset epilepsy, hypotonia, varying degrees of intellectual disability (ID), developmental delay (DD), and facial dysmorphism. This study clarifies the molecular diagnosis and causative factors of a Chinese boy with POBINDS.Methods: The clinical phenotypes and ancillary laboratory tests were collected and analyzed by trio whole exome sequencing (WES) and copy number variant sequencing (CNV-seq) in the follow-up proband's families. The candidate variant was validated by Sanger sequencing and bioinformatics software was used to further explore the effect of the de novo frameshift variant on the protein structure.Results: The proband carries a de novo frameshift variant c.453_c.454insAC (p.H152fs*76) in CSNK2B. According to the ACMG genetic variant classification criteria and guidelines, the locus is a pathogenic variant (PVS1+PS2+PM2) and the associated disease was POBINDS. Protein structure prediction suggests significant differences in amino acid sequences before and after mutation.Conclusion: A rare case of POBINDS caused by a novel frameshift variant in CSNK2B was diagnosed. The novel variant extends the variation spectrum of CSNK2B, which provides guidance for early clinical diagnosis, genetic counseling and treatment of this family. A review of the currently reported cases of POBINDS further enriches and summarizes the relationship between genotype and phenotype of POBINDS.