Ontology highlight
ABSTRACT:
SUBMITTER: Colin E
PROVIDER: S-EPMC5011045 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Colin Estelle E Daniel Jens J Ziegler Alban A Wakim Jamal J Scrivo Aurora A Haack Tobias B TB Khiati Salim S Denommé Anne-Sophie AS Amati-Bonneau Patrizia P Charif Majida M Procaccio Vincent V Reynier Pascal P Aleck Kyrieckos A KA Botto Lorenzo D LD Herper Claudia Lena CL Kaiser Charlotte Sophia CS Nabbout Rima R N'Guyen Sylvie S Mora-Lorca José Antonio JA Assmann Birgit B Christ Stine S Meitinger Thomas T Strom Tim M TM Prokisch Holger H Miranda-Vizuete Antonio A Hoffmann Georg F GF Lenaers Guy G Bomont Pascale P Liebau Eva E Bonneau Dominique D
American journal of human genetics 20160818 3
Via whole-exome sequencing, we identified rare autosomal-recessive variants in UBA5 in five children from four unrelated families affected with a similar pattern of severe intellectual deficiency, microcephaly, movement disorders, and/or early-onset intractable epilepsy. UBA5 encodes the E1-activating enzyme of ubiquitin-fold modifier 1 (UFM1), a recently identified ubiquitin-like protein. Biochemical studies of mutant UBA5 proteins and studies in fibroblasts from affected individuals revealed t ...[more]