Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability.

Sinan Li,Wenxin Zhang, Piao Liang, Min Zhu,Bixia Zheng,Wei Zhou,Chunli Wang,Xiaoke Zhao

Frontiers in neurology（2023）

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摘要

The study identified six probands with gene variants associated with X-linked ID. It expanded the gene and phenotype spectrum of variants. The bioinformatic analysis supported the pathogenicity of variants. However, these gene variants did not affect the ClC-4 expression levels and protein location, consistent with previous studies. Further investigations are necessary to investigate the pathogenetic mechanism.

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关键词

intellectual disability, MRXSRC, CLCN4 gene, missense variant, splice site variant

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