Article
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
Journal of human genetics - 1 Mar 2022
Kameyama Shinichi, Mizuguchi Takeshi, Fukuda Hiromi, Moey Lip Hen, Keng Wee Teik, Okamoto Nobuhiko, Tsuchida Naomi, Uchiyama Yuri, Koshimizu Eriko, Hamanaka Kohei, Fujita Atsushi, Miyatake Satoko, Matsumoto Naomichi
Abstract excerpt
Biallelic variants in ZNF142 at 2q35, which encodes zinc-finger protein 142, cause neurodevelopmental disorder with seizures or dystonia. We identified compound heterozygous null variants in ZNF142, NM_001105537.4:c.[1252C>T];[1274-2A>G],p.[Arg418*];[Glu426*], in Malaysian siblings suffering from global developmental delay with epilepsy and dysmorphism. cDNA analysis showed the marked reduction of ZNF142...
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