Ontology highlight
ABSTRACT:
SUBMITTER: Fichtman B
PROVIDER: S-EPMC6612515 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Fichtman Boris B Harel Tamar T Biran Nitzan N Zagairy Fadia F Applegate Carolyn D CD Salzberg Yuval Y Gilboa Tal T Salah Somaya S Shaag Avraham A Simanovsky Natalia N Ayoubieh Houriya H Sobreira Nara N Punzi Giuseppe G Pierri Ciro Leonardo CL Hamosh Ada A Elpeleg Orly O Harel Amnon A Edvardson Simon S
American journal of human genetics 20190606 1
We report biallelic missense and frameshift pathogenic variants in the gene encoding human nucleoporin NUP214 causing acute febrile encephalopathy. Clinical symptoms include neurodevelopmental regression, seizures, myoclonic jerks, progressive microcephaly, and cerebellar atrophy. NUP214 and NUP88 protein levels were reduced in primary skin fibroblasts derived from affected individuals, while the total number and density of nuclear pore complexes remained normal. Nuclear transport assays exhibit ...[more]