title: Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.
abstract: The cytoplasmic dynein heavy chain (DYNC1H1) gene has been increasingly associated with neurodegenerative disorders including axonal Charcot-Marie-Tooth disease (CMT2), intellectual disability and malformations of cortical development. In addition, evidence from mouse models (Loa, catabolite repressor-activator (Cra) and Sprawling (Swl)) has shown that mutations in Dync1h1 cause a range of neurodegenerative phenotypes with motor and sensory neuron involvement. In this current study, we examined the possible contribution of other cytoplasmic dynein subunits that bind to DYNC1H1 as a cause of inherited peripheral neuropathy. We focused on screening the cytoplasmic dynein intermediate, light intermediate and light chain genes in a cohort of families with inherited peripheral neuropathies. Nine genes were screened and ten variants were detected, but none was identified as pathogenic, indicating that cytoplasmic dynein intermediate, light intermediate and light chains are not a cause of neuropathy in our cohort.
authors.affiliation: Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
authors.forename: Shelisa
authors.initials: S
authors.lastname: Tey
authors.forename: Azlina
authors.initials: A
authors.lastname: Ahmad-Annuar
authors.forename: Alexander P
authors.initials: AP
authors.lastname: Drew
authors.forename: Nortina
authors.initials: N
authors.lastname: Shahrizaila
authors.forename: Garth A
authors.initials: GA
authors.lastname: Nicholson
authors.forename: Marina L
authors.initials: ML
authors.lastname: Kennerson
mesh_terms: D056445:Cytoplasmic Dyneins / Q000235:genetics*; D004268:DNA-Binding Proteins; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D010523:Peripheral Nervous System Diseases / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C511240:DYNC1H1 protein, human; D056445:Cytoplasmic Dyneins