@article{a2e5788f33e146829c6464980996564e,
title = "A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability",
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.",
author = "Lingli Huang and Jolly, {Lachlan A.} and Saffron Willis-Owen and Alison Gardner and Raman Kumar and Evelyn Douglas and Cheryl Shoubridge and Dagmar Wieczorek and Andreas Tzschach and Monika Cohen and Anna Hackett and Michael Field and Guy Froyen and Hao Hu and Haas, {Stefan A.} and Ropers, {Hans Hilger} and Kalscheuer, {Vera M.} and Corbett, {Mark A.} and Jozef Gecz",
note = "Funding Information: We would like to express our gratitude to all participating individuals, L. Hobson for assistance with Sanger sequencing, M. Bienek for assistance with X-exome sequencing, K. Friend for linkage analysis, C. Schwartz for additional information about the c.5379+2T>C mutation, and F. Lammers and W. Herr for kindly providing HCFC1 full-length cDNA and rabbit anti-HCFC1 antibody. L.H. was supported by a scholarship under the State Scholarship Fund from China Scholarship Council. This work was supported by the German Federal Ministry of Education and Research through the German Mental Retardation Network (grant 01GS08167 to D.W. and grant 01GS08161 to H.H.R.), the European Union{\textquoteright}s Seventh Framework Program under grant agreement number 241995, project GENCODYS, and grants from the National Health and Medical Research Council of Australia (project grant 1008077 and Principal Research Fellowship 508043 to J.G.). ",
year = "2012",
month = oct,
day = "5",
doi = "10.1016/j.ajhg.2012.08.011",
language = "English",
volume = "91",
pages = "694--702",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",
}