PDF(Pubmed)
Abstract：
UNASSIGNED: Okur-Chung neurodevelopmental syndrome (OCNDS; #617062) has been associated with heterozygous mutations in the CSNK2A1 gene (*115440) mapped on the chromosome\'s 20p13 region.
UNASSIGNED: The analysis was performed on a 2-year-old patient who was admitted to our genetic diseases evaluation center by his family with a complaint of hypotonia. We detected a heterozygous NM_177559.3 (CSNK2A1):c.1139_1140dupGG (p.Met381GlyfsTer32) variant in the CSNK2A1 gene from a whole-exome sequence analysis.
UNASSIGNED: The variant that we detected has not been reported in open-access databases to date, so it was evaluated as a novel likely pathogenic variant according to the ACMG-2015 criteria. No variant was detected upon segregation analysis of the patient\'s parents; therefore, the related variant was evaluated as de novo. In this study, we offer the first report of a pathogenic frameshift variant in the CSNK2A1 gene that has a relationship with OCNDS.
UNASSIGNED: The analysis was performed on a 2-year-old patient who was admitted to our genetic diseases evaluation center by his family with a complaint of hypotonia. We detected a heterozygous NM_177559.3 (CSNK2A1):c.1139_1140dupGG (p.Met381GlyfsTer32) variant in the CSNK2A1 gene from a whole-exome sequence analysis.
UNASSIGNED: The variant that we detected has not been reported in open-access databases to date, so it was evaluated as a novel likely pathogenic variant according to the ACMG-2015 criteria. No variant was detected upon segregation analysis of the patient\'s parents; therefore, the related variant was evaluated as de novo. In this study, we offer the first report of a pathogenic frameshift variant in the CSNK2A1 gene that has a relationship with OCNDS.
摘要：
■Okur-Chung神经发育综合征（OCNDS；＃617062）与定位在染色体20p13区域的CSNK2A1基因（*115440）中的杂合突变有关。
■该分析是对一名2岁的患者进行的，该患者被其家人收治到我们的遗传病评估中心，并抱怨张力减退。我们检测到杂合NM_177559.3（CSNK2A1）：c.1139_1140dupGG（p。Met381GlyfsTer32）来自全外显子组序列分析的CSNK2A1基因中的变体。
■迄今为止，我们检测到的变体尚未在开放访问数据库中报告，因此根据ACMG-2015标准将其评估为新的可能致病变异体.在患者父母的隔离分析中没有检测到变异；因此，相关变体被评估为从头。在这项研究中,我们首次报道了CSNK2A1基因中与OCNDS相关的致病性移码变体。
■该分析是对一名2岁的患者进行的，该患者被其家人收治到我们的遗传病评估中心，并抱怨张力减退。我们检测到杂合NM_177559.3（CSNK2A1）：c.1139_1140dupGG（p。Met381GlyfsTer32）来自全外显子组序列分析的CSNK2A1基因中的变体。
■迄今为止，我们检测到的变体尚未在开放访问数据库中报告，因此根据ACMG-2015标准将其评估为新的可能致病变异体.在患者父母的隔离分析中没有检测到变异；因此，相关变体被评估为从头。在这项研究中,我们首次报道了CSNK2A1基因中与OCNDS相关的致病性移码变体。
