Ontology highlight
ABSTRACT:
SUBMITTER: Woldegebriel R
PROVIDER: S-EPMC7297229 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Woldegebriel Rosa R Kvist Jouni J Andersson Noora N Õunap Katrin K Reinson Karit K Wojcik Monica H MH Bijlsma Emilia K EK Hoffer Mariëtte J V MJV Ryan Monique M MM Stark Zornitza Z Walsh Maie M Cuppen Inge I van den Boogaard Marie-Jose H MH Bharucha-Goebel Diana D Donkervoort Sandra S Winchester Sara S Zori Roberto R Bönnemann Carsten G CG Maroofian Reza R O'Connor Emer E Houlden Henry H Zhao Fang F Carpén Olli O White Matthew M Sreedharan Jemeen J Stewart Murray M Ylikallio Emil E Tyynismaa Henna H
Human molecular genetics 20200601 9
Defects in the mRNA export scaffold protein GANP, encoded by the MCM3AP gene, cause autosomal recessive early-onset peripheral neuropathy with or without intellectual disability. We extend here the phenotypic range associated with MCM3AP variants, by describing a severely hypotonic child and a sibling pair with a progressive encephalopathic syndrome. In addition, our analysis of skin fibroblasts from affected individuals from seven unrelated families indicates that disease variants result in dep ...[more]