[一名重度智力障碍患者中LINS1基因变异的鉴定]
[Identification of LINS1 gene variant in a patient with severe mental retardation].
作者信息
Zhang Xinli, Pan Liming, Shen Guosong
机构信息
Huzhou Maternity and Child Health Care Hospital, Huzhou, Zhejiang 313000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):57-59. doi: 10.3760/cma.j.issn.1003-9406.2020.01.015.
OBJECTIVE
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.
目的
探讨一名特发性智力障碍儿童的遗传基础。
方法
收集该儿童的临床资料和外周血样本。提取基因组DNA，并使用单核苷酸多态性阵列比较基因组杂交（SNP-aCGH）以及靶向捕获和下一代测序（NGS）进行拷贝数分析。
结果
SNP-aCGH未检测到微缺失/微重复。NGS检测到LISN1基因的纯合c.722delA（p.Asp241fs）变异，已知该变异是常染色体隐性智力障碍27（MRT 27）的病因。父母双方均为该变异的携带者，符合常染色体隐性遗传。
结论
已鉴定出LINS1基因的一种新型致病变异，该变异可能是患者MRT 27的病因。
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