Article
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
American journal of human genetics - 7 Dec 2012
Schuurs-Hoeijmakers Janneke H M, Oh Edwin C, Vissers Lisenka E L M, Swinkels Mariëlle E M, Gilissen Christian, Willemsen Michèl A, Holvoet Maureen, Steehouwer Marloes, Veltman Joris A, de Vries Bert B A, van Bokhoven Hans, de Brouwer Arjan P M, Katsanis Nicholas, Devriendt Koenraad, Brunner Han G
Abstract excerpt
We studied two unrelated boys with intellectual disability (ID) and a striking facial resemblance suggestive of a hitherto unappreciated syndrome. Exome sequencing in both families identified identical de novo mutations in PACS1, suggestive of causality. To support these genetic findings and to understand the pathomechanism of the mutation, we studied the protein in vitro and in vivo. Altered PACS1 forms...
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