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Title: A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
Authors: Huang, Lingli
Jolly, Lachlan A
Willis-Owen, Saffron
Gardner, Alison
Kumar, Raman
Douglas, Evelyn
Shoubridge, Cheryl
Wieczorek, Dagmar
Tzschach, Andreas
Cohen, Monika
Hackett, Anna
Field, Michael
Froyen, Guy
Hu, Hao
Haas, Stefan A
Ropers, Hans-Hilger
Kalscheuer, Vera M
Corbett, Mark A
Gecz, Jozef # ×
Issue Date: Oct-2012
Publisher: American Society of Human Genetics
Series Title: American Journal of Human Genetics vol:91 issue:4 pages:694-702
Article number: 10.1016/j.ajhg.2012.08.011
Abstract: The discovery of mutations causing human disease has so far been biased toward protein-coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel resequencing of the nonrepetitive genomic linkage interval at Xq28 of family MRX3. We identified in the binding site of transcription factor YY1 a regulatory mutation that leads to overexpression of the chromatin-associated transcriptional regulator HCFC1. When tested on embryonic murine neural stem cells and embryonic hippocampal neurons, HCFC1 overexpression led to a significant increase of the production of astrocytes and a considerable reduction in neurite growth. Two other nonsynonymous, potentially deleterious changes have been identified by X-exome sequencing in individuals with intellectual disability, implicating HCFC1 in normal brain function.
URI: 
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Genome Laboratory
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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