Article
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.
Human mutation - 1 Nov 2014
Metsu Sofie, Rainger Jacqueline K, Debacker Kim, Bernhard Birgitta, Rooms Liesbeth, Grafodatskaya Daria, Weksberg Rosanna, Fombonne Eric, Taylor Martin S, Scherer Stephen W, Kooy R Frank, FitzPatrick David R
Abstract excerpt
We report de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A in a male with an autistic spectrum disorder (ASD) due to a CGG-repeat expansion mutation (∼450 repeats) in a 5' intron of ZNF713. This expanded allele showed hypermethylation of the adjacent CpG island with reduced ZNF713 expression observed in a proband-derived lymphoblastoid cell line (LCL). His unaffected mother carried an...
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