EBF3基因杂合突变导致1例神经发育障碍综合征

doi:10.6040/j.issn.1671-7554.0.2019.1529

摘要/Abstract

摘要： 目的对一例体格发育迟缓、智力低下、共济失调及肌张力低下等神经发育障碍患儿的临床特点及致病基因进行分析。方法详细分析患儿的临床表型,分别采集患儿及父母的抗凝外周血,对患儿样本进行外周血淋巴细胞G显带核型分析和SNP-array检测,对患儿及父母的外周血DNA进行全外显子组测序,生物信息学分析突变位点的致病性。结果患儿外周血染色体核型分析及SNP-array未发现致病突变,全外显子组测序结果表明患儿存在EBF3基因杂合突变 c.626G>A(p.Arg209Gln),利用Sanger测序进行突变位点验证,结果证实患儿存在该位点突变,而父母没有该位点突变。结论该患儿的发病原因为EBF3基因新发杂合突变 c.626G>A(p.Arg209Gln),该突变位点国内尚无报道。

关键词: 肌张力减退、共济失调和发育迟缓综合征, 全外显子组测序, EBF3基因, 基因突变

Abstract: Objective To explore the genetic basis of an infant with global developmenfal delay, mental retardation,hypotonia and ataxia. Methods The clinical phenotypes of the infant were analyzed. Peripheral blood samples were collected from the infant and his parents. The infant blood sample underwent G-banding chromosome analysis and SNP-array. The infant and his parents’ blood samples underwent whole exome sequencing. The pathogenicity of mutation sites was analyzed with bioinformatics. Results The G-band chromosome analysis and SNP-array of the infant showed no pathogenic mutation. The whole exome sequencing revealed that there was a heterozygous mutation of EBF3 c.626G>A(p.Arg209Gln)in the infant, which was validated by Sanger sequencing, but the parents had no such mutation. Conclusion The heterozygous mutation of EBF3 c.626G>A(p.Arg209Gln)probably underlies the disorder in the infant, which has not been reported in China.

Key words: Hypotonia, ataxia and delayed development syndrome, Whole exome sequencing, EBF3 gene, Gene mutation

中图分类号:

R596.2

刘娜,刘奇迹,牟凯,程翠云. EBF3基因杂合突变导致1例神经发育障碍综合征[J]. 山东大学学报 (医学版), 2020, 58(4): 105-109.

LIU Na, LIU Qiji, MOU Kai, CHENG Cuiyun. A case of syndromic neurodevelopmental disorder caused by heterozygous mutation in EBF3[J]. Journal of Shandong University (Health Sciences), 2020, 58(4): 105-109.

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