Article
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2018
Salpietro Vincenzo, Perez-Dueñas Belen, Nakashima Kosuke, San Antonio-Arce Victoria, Manole Andreea, Efthymiou Stephanie, Vandrovcova Jana, Bettencourt Conceicao, Mencacci Niccolò E, Klein Christine, Kelly Michy P, Davies Ceri H, Kimura Haruhide, Macaya Alfons, Houlden Henry
Abstract excerpt
BACKGROUND: We investigated a family that presented with an infantile-onset chorea-predominant movement disorder, negative for NKX2-1, ADCY5, and PDE10A mutations. METHODS: Phenotypic characterization and trio whole-exome sequencing was carried out in the family. RESULTS: We identified a homozygous mutation affecting the GAF-B domain of the 3',5'-cyclic nucleotide phosphodiesterase PDE2A gene (c.1439A>G;...
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