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A non-coding mutation implicates HCFC1 in non-syndromic intellectual disability

ABSTRACT: Human disease mutation discovery has so far been biased towards protein coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel re-sequencing of the non-repetitive genomic linkage interval of the MRX3 family at Xq28. We identified a regulatory mutation in the YY1 transcription factor binding site, which leads to overexpression of the chromatin-associated transcriptional regulator, HCFC1. When tested on embryonic murine neural stem cells (NSCs) and embryonic hippocampal neurons, HCFC1 overexpression led to a significant increase of the production of astrocytes and considerable reduction in neurite growth. Two other non-synonymous, potentially deleterious changes have been identified by X-exome sequencing in individuals with intellectual disability, implicating HCFC1 in normal brain function.

ORGANISM(S): Homo sapiens

PROVIDER: GSE39326 | GEO | 2012/09/01

SECONDARY ACCESSION(S): PRJNA170615

REPOSITORIES: GEO

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A non-coding mutation implicates HCFC1 in non-syndromic intellectual disability

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