Journal article
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability
E Ylikallio, R Woldegebriel, M Tumiati, P Isohanni, MM Ryan, Z Stark, M Walsh, SL Sawyer, KM Bell, A Oshlack, PJ Lockhart, M Shcherbii, A Estrada-Cuzcano, D Atkinson, T Hartley, M Tetreault, I Cuppen, WL Van Der Pol, A Candayan, E Battaloglu Show all
Brain | OXFORD UNIV PRESS | Published : 2017
DOI: 10.1093/brain/awx138
Abstract
Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild to moderate intellectual disability was present in seven of nine affected individuals. The affected individuals were either compound heterozygous or homozygous for different MCM3AP variants, which were predicted to cause depletion of GANP or affect conserved amino acids with likely ..
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Awarded by Association Belge contre les Maladies Neuro-Musculaires
Funding Acknowledgements
Patient A's sequencing was completed as part of a study funded and supported by the Melbourne Genomic Health Alliance. This work was supported in part by the Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS. Whole exome sequencing for Family C was performed as part of the Care4Rare Canada Consortium, funded by Genome Canada, the Canadian Institutes of Health Research, the Ontario Genomics Institute, Ontario Research Fund, Genome Quebec, and Children's Hospital of Eastern Ontario Foundation. Analysis of the Turkish family is supported partially by Bogazici University Research Fund Grant Number 14B01D5. The following funding sources are also gratefully acknowledged: Academy of Finland (H.T., E.Y., L.K.), Sigrid Juselius Foundation (H.T., L.K.), University of Helsinki (H.T., E.Y., M.T.), Biocentrum Helsinki (L.K.), Finska lakaresallskapet (E.Y.), Helsinki University Hospital (E.Y.), Foundation for Pediatric Research (P.I.), Fund for Scientific Research-Flanders (FWO) (A.J.), University of Antwerp (A.J.), Belgium Association for Neuromuscular Disorders (ABMM) (A.J.), research fellowships from the Fund for Scientific Research-Flanders (FWO) (D.A., A.E.-C), NHMRC Career Development Fellowship (GNT1032364) (P.J.L).