Identification of LINS1 gene variant in a patient with severe mental retardation
10.3760/cma.j.issn.1003-9406.2020.01.015
- VernacularTitle: 一例重度智力障碍患儿的LINS1基因变异分析
- Author:
Xinli ZHANG
1
;
Liming PAN
;
Guosong SHEN
Author Information
1. Huzhou Maternity and Child Health Care Hospital, Huzhou, Zhejiang 313000, China
- Publication Type:Clinical Trail
- Keywords:
Mental retardation;
LINS1 gene;
Target gene capture and sequencing;
Wnt signaling pathway;
Autosomal recessive mental retardation - 27
- From:
Chinese Journal of Medical Genetics
2020;37(1):57-59
- CountryChina
- Language:Chinese
-
Abstract:
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.
