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Article

Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.

European journal of medical genetics - 1 May 2021

Chen Meilin, Quan Yingting, Duan Guiqin, Wu Huidan, Bai Ting, Wang Yazhe, Zhou Shimin, Ou Jianjun, Shen Yidong, Hu Zhengmao, Xia Kun, Guo Hui

Abstract excerpt

SETD2 encodes an important protein for epigenetic modification of histones which plays an essential role in early development. Variants in SETD2 have been reported in neurodevelopmental disorders including autism spectrum disorder (ASD). However, most de novo SETD2 variants were reported in different large-cohort sequencing studies, mutation pattern and comprehensive genotype-phenotype correlations for SETD2 are...

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Child, Preschool
Histone-Lysine N-Methyltransferase
Mutation
Neurodevelopmental Disorders
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33766796
DOI: 10.1016/j.ejmg.2021.104200

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