Laboratory Medicine ›› 2021, Vol. 36 ›› Issue (2): 140-146.DOI: 10.3969/j.issn.1673-8640.2021.02.005

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Analysis of clinical and genetic characteristics of GRIN1 mutation-related underdevelopment

LU Yaya1, DING Yu2, YAO Ruen3, WANG Yirou2, ZHANG Qianwen2, LI Qun2, WANG Jian3, WANG Xiumin2(), LOU Dan1()   

  1. 1. Department of Pediatrics,the First Affiliated Hospital of Henan University of Science and Technology,Luoyang 471000,Henan,China
    2. Department of Endocrinology and Metabolism,Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China
    3. Department of Medical Genetics and Molecular Diagnostic Laboratory,Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China
  • Received:2020-05-29 Online:2021-02-28 Published:2021-02-28
  • Contact: WANG Xiumin,E-mail:wangxinmin1019@126.com;LOU Dan,E-mail:loudan69@163.com。

Abstract:

Objective To analyze clinical and genetic characteristics of GRIN1 mutation-related underdevelopment. Methods Clinical data of 2 developmental retardation children were collected,and targeted gene sequencing(TGS) was performed in the 2 children and their parents. The clinical and genetic characteristics of developmental retardation children were analyzed together with literature review. Results The 2 children showed mental retardation,language backwardness,motor backwardness,no special face or epilepsy. One of them was complicated with dwarfism. The results of TGS showed that there were mutations in GRIN1 gene of the 2 children. One had missense variant c.1672t > G,p.Phe558Val(heterozygous),and the other had missense variant c.1852g > A,p.Gly618Ser(heterozygous). Both of their parents were normal at the same gene loci. Conclusion GRIN1 genetic mutation on the developmental retardation children is newly discovered. TGS is helpful to make clear the molecular mechanism of developmental retardation.

Key words: GRIN1 gene, Genetic mutation, Developmental retardation

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