X 连锁综合征性智力障碍中发现 CNKSR2 基因外显子缺失。
Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability.
机构信息
Department of of Eastern Neurology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou Children's Hospital, Zhengzhou, China.
Department of Intensive Care Unit, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou Children's Hospital, Zhengzhou, China.
出版信息
BMC Med Genet. 2020 Apr 3;21(1):69. doi: 10.1186/s12881-020-01004-2.
BACKGROUND
The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in literature thus far.
CASE PRESENTATION
We present two brothers with intractable seizures and syndromic intellectual disability with symptoms consisting of delayed development, intellectual disability, and speech and language delay. The mother was a symptomatic carrier with milder clinical phenotype. Whole exome sequencing identified a small fragment deletion spanning four exons, about 9.5 kilobases (kb) in length in the CNKSR2 gene in the patients. The mutation co-segregation revealed that exon deletions occurred de novo in the proband's mother.
CONCLUSION
Although large deletions have been reported, no small deletions have yet been identified. In this case report, we identified a small deletion in the CNKSR2 gene. This study enhances our knowledge of the CNKSR2 gene mutation spectrum and provides further information about the phenotypic characteristics of X-linked syndromic intellectual disability.
背景
豪格型 X 连锁综合征性智力障碍是一种 X 连锁智力障碍（XLID），最近在在线孟德尔遗传数据库（OMIM）中记录，迄今为止，文献中仅报道了 8 例。
病例介绍
我们介绍了 2 例有难治性癫痫和综合征性智力障碍的兄弟，其症状包括发育迟缓、智力障碍、言语和语言迟缓。母亲是有症状的携带者，临床表现较轻。全外显子组测序发现患者的 CNKSR2 基因中有一段约 9.5kb 的小片段缺失，跨越 4 个外显子。该突变共分离表明先证者母亲的外显子缺失是新生的。
结论
尽管已经报道了大片段缺失，但尚未发现小片段缺失。在本病例报告中，我们在 CNKSR2 基因中发现了一个小的缺失。本研究加深了我们对 CNKSR2 基因突变谱的认识，并提供了更多关于 X 连锁综合征性智力障碍表型特征的信息。
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