The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.

ABSTRACT: GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome and lethal arthrogryposis with anterior horn cell disease; phenotypes reported in individuals include fetal akinesia and a severe form of motor neuron disease, typically presenting with prenatal symptoms and perinatal lethality. In this article, we identified biallelic missense mutations in GLE1 by trio whole-exome sequencing in an individual affected with congenital motor weakness and contractures as well as feeding and respiratory difficulties. Muscle biopsy was consistent with anterior horn cell disease and supported the pathogenicity of the sequence v

SUBMITTER: Tan QK 

PROVIDER: S-EPMC5701308 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature