Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features

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 f...

Full description

Saved in:
Bibliographic Details
Published in:Journal of human genetics 2022-03, Vol.67 (3), p.169-173
Main Authors: 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
Format: Article
Language:English
Subjects:
Child
Developmental Disabilities - genetics
Dystonia
Epilepsy
Epilepsy - genetics
Epileptic Syndromes
Humans
mRNA turnover
Neurodevelopmental disorders
Neurodevelopmental Disorders - genetics
Nonsense-mediated mRNA decay
Phenotype
Seizures
Seizures - genetics
Siblings
Transcription
Zinc finger proteins
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 transcript level through nonsense-mediated mRNA decay by these novel biallelic variants. The affected siblings present with global developmental delay and epilepsy in common, which were previously described, as well as dysmorphism, which was not recognized. It is important to collect patients with ZNF142 abnormality to define its phenotypic spectrum.
ISSN:1434-5161
1435-232X
DOI:10.1038/s10038-021-00978-y