摘要目的:对1例不明原因智力障碍患儿进行遗传学分析，明确导致常染色体隐性智力障碍-27(mental retardation, non-syndromic, autosomal recessive, MRT27)的遗传学病因。方法:应用单核苷酸多态-微阵列比较基因组杂交技术以及目标基因捕获测序法对患儿进行智力障碍/发育迟缓相关基因外显子检测。结果:排除患儿基因组微缺失/微重复。目标基因捕获测序法检测到患儿的 LINS1基因c.722delA(p.Asp241fs)纯合变异，父母均携带c.722delA(p.Asp241fs)杂合变异，符合常染色体隐性遗传方式。 结论:LINS1基因c.722delA(p.Asp241fs)变异导致了患儿MRT27的发生。

abstractsObjective:To explore the genetic basis of a child with idiopathic mental retardation.Methods:Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS).Results:No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c. 722delA(p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation - 27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance. Conclusion:A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.