Chen Xiaolan, Han Yunli, Li Xing, Huang Shiqin, Yuan Hai, Qin Yuanhan
Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Front Pediatr. 2023 Mar 20;11:967701. doi: 10.3389/fped.2023.967701. eCollection 2023.
The Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare disease caused by mutations in the CSNK2B gene, which is characterized by intellectual disability and early-onset epilepsy. Mosaicism has not been previously reported in CSNK2B gene. POBINDS is autosomal dominant and almost all reported cases were variants. Here, we report two patients were diagnosed with POBINDS. Using Whole Exome Sequencing (WES), we detected two novel CSNK2B variants in the two unrelated individuals: c.634_635del (p.Lys212AspfsTer33) and c.142C > T (p.Gln48Ter) respectively. Both of them showed mild developmental delay with early-onset and clustered seizures. The patient with c.634_635del(p.Lys212AspfsTer33) variant was mutant mosaicism, and the proportion of alleles in peripheral blood DNA was 28%. Further, the literature of patients with a mutation of the CSNK2B gene was reviewed, particularly seizure semiology and genotype-phenotype correlations.
波里尔 - 比安弗努神经发育综合征（POBINDS）是一种由CSNK2B基因突变引起的罕见疾病，其特征为智力残疾和早发性癫痫。此前尚未有关于CSNK2B基因嵌合体的报道。POBINDS为常染色体显性遗传，几乎所有报道的病例均为变异型。在此，我们报告两名被诊断为POBINDS的患者。通过全外显子测序（WES），我们在两名无亲缘关系的个体中分别检测到两个新的CSNK2B变异：c.634_635del（p.Lys212AspfsTer33）和c.142C>T（p.Gln48Ter）。他们均表现出轻度发育迟缓以及早发性和丛集性癫痫发作。携带c.634_635del（p.Lys212AspfsTer33）变异的患者为突变嵌合体，外周血DNA中的等位基因比例为28%。此外，我们还回顾了CSNK2B基因突变患者的文献，特别是癫痫发作症状学和基因型 - 表型相关性。
