Article
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
American journal of human genetics - 5 Oct 2012
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
Abstract excerpt
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...
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