PDF(Pubmed)
Abstract：
UNASSIGNED: Intellectual disability, X-linked, syndromic, Christianson type (MRXSCH, OMIM: 300243)-known as Christianson syndrome (CS)-is characterized by microcephaly, epilepsy, ataxia, and absence of verbal language ability. CS is attributed to mutations in the solute carrier family 9 member A6 gene (SLC9A6).
UNASSIGNED: This study reports the case of a boy 1 year and 3 months of age who was diagnosed with CS in our department. Genetic etiology was determined by whole-exome sequencing, and a minigene splicing assay was used to verify whether the mutation affected splicing. A literature review of CS cases was conducted and the clinical and genetic features were summarized.
UNASSIGNED: The main clinical manifestations of CS include seizures, developmental regression, and exceptional facial features. Whole-exome sequencing revealed a de novo splice variant in intron 11 (c.1366 + 1G > C) of SLC9A6. The mutation produced two abnormal mRNA products (verified by a minigene splicing assay), resulting in the formation of truncated protein. A total of 95 CS cases were identified in the literature, with various symptoms, such as delayed intellectual development (95/95, 100.00%), epilepsy (87/88, 98.86%), and absent verbal language (75/83, 90.36%). At least 50 pathogenic variants of SLC9A6 have been identified, with the highest frequency observed in exon 12.
UNASSIGNED: Our patient is the first case with the c.1366 + 1G > C variant of SLC9A6 in CS. The summary of known cases can serve as a reference for analyzing the mutation spectrum and pathogenesis of CS.
UNASSIGNED: This study reports the case of a boy 1 year and 3 months of age who was diagnosed with CS in our department. Genetic etiology was determined by whole-exome sequencing, and a minigene splicing assay was used to verify whether the mutation affected splicing. A literature review of CS cases was conducted and the clinical and genetic features were summarized.
UNASSIGNED: The main clinical manifestations of CS include seizures, developmental regression, and exceptional facial features. Whole-exome sequencing revealed a de novo splice variant in intron 11 (c.1366 + 1G > C) of SLC9A6. The mutation produced two abnormal mRNA products (verified by a minigene splicing assay), resulting in the formation of truncated protein. A total of 95 CS cases were identified in the literature, with various symptoms, such as delayed intellectual development (95/95, 100.00%), epilepsy (87/88, 98.86%), and absent verbal language (75/83, 90.36%). At least 50 pathogenic variants of SLC9A6 have been identified, with the highest frequency observed in exon 12.
UNASSIGNED: Our patient is the first case with the c.1366 + 1G > C variant of SLC9A6 in CS. The summary of known cases can serve as a reference for analyzing the mutation spectrum and pathogenesis of CS.
摘要：
■智力残疾，X-linked,综合征,克里斯蒂安森类型(MRXSCH，OMIM：300243）-被称为克里斯蒂安森综合征（CS）-的特征是小头畸形，癫痫,共济失调,缺乏口头语言能力。CS归因于溶质载体家族9成员A6基因(SLC9A6)中的突变。
本研究报告了一个1岁零3个月大的男孩在我们部门被诊断为CS的病例。遗传病因是通过全外显子组测序确定的，小基因剪接试验用于验证突变是否影响剪接。对CS病例进行文献复习，总结其临床和遗传学特征。
■CS的主要临床表现包括癫痫发作，发育回归，和特殊的面部特征。全外显子组测序揭示了SLC9A6的内含子11中的从头剪接变体(c.1366+1G>C)。该突变产生了两个异常的mRNA产物（通过小基因剪接试验验证），导致形成截短的蛋白质。文献中总共确定了95例CS病例，有各种症状，如智力发育延迟(95/95，100.00%)，癫痫（87/88，98.86%），缺乏口头语言（75/83，90.36%）。已经鉴定出至少50种SLC9A6的致病变体，在外显子12中观察到的频率最高。
■我们的患者是CS中首例SLC9A6的c.1366+1G>C变体。对已知病例的总结可为分析CS的突变谱和发病机制提供参考。
本研究报告了一个1岁零3个月大的男孩在我们部门被诊断为CS的病例。遗传病因是通过全外显子组测序确定的，小基因剪接试验用于验证突变是否影响剪接。对CS病例进行文献复习，总结其临床和遗传学特征。
■CS的主要临床表现包括癫痫发作，发育回归，和特殊的面部特征。全外显子组测序揭示了SLC9A6的内含子11中的从头剪接变体(c.1366+1G>C)。该突变产生了两个异常的mRNA产物（通过小基因剪接试验验证），导致形成截短的蛋白质。文献中总共确定了95例CS病例，有各种症状，如智力发育延迟(95/95，100.00%)，癫痫（87/88，98.86%），缺乏口头语言（75/83，90.36%）。已经鉴定出至少50种SLC9A6的致病变体，在外显子12中观察到的频率最高。
■我们的患者是CS中首例SLC9A6的c.1366+1G>C变体。对已知病例的总结可为分析CS的突变谱和发病机制提供参考。
