Ontology highlight
ABSTRACT:
SUBMITTER: Kumar R
PROVIDER: S-EPMC6481655 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Kumar Raman R Gardner Alison A Homan Claire C CC Douglas Evelyn E Mefford Heather H Wieczorek Dagmar D Lüdecke Hermann-Josef HJ Stark Zornitza Z Sadedin Simon S Nowak Catherine Bearce CB Douglas Jessica J Parsons Gretchen G Mark Paul P Loidi Lourdes L Herman Gail E GE Mihalic Mosher Theresa T Gillespie Meredith K MK Brady Lauren L Tarnopolsky Mark M Madrigal Irene I Eiris Jesús J Domènech Salgado Laura L Rabionet Raquel R Strom Tim M TM Ishihara Naoko N Inagaki Hidehito H Kurahashi Hiroki H Dudding-Byth Tracy T Palmer Elizabeth E EE Field Michael M Gecz Jozef J
Human mutation 20180614 8
Highly conserved TREX-mediated mRNA export is emerging as a key pathway in neuronal development and differentiation. TREX subunit variants cause neurodevelopmental disorders (NDDs) by interfering with mRNA export from the cell nucleus to the cytoplasm. Previously we implicated four missense variants in the X-linked THOC2 gene in intellectual disability (ID). We now report an additional six affected individuals from five unrelated families with two de novo and three maternally inherited pathogeni ...[more]