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A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID

Akcimen, F; Vural, A; Durmus, H; Cakar, A; Houlden, H; Parman, YG; Basak, AN; (2019) A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID. Journal of Human Genetics , 64 pp. 1141-1144. 10.1038/s10038-019-0652-y. Green open access

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Abstract

Distal hereditary motor neuronopathies (dHMN) are a genetically heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and progressive distal muscle weakness. A heterozygous missense variant in FBXO38 has been previously described in two families affected by autosomal-dominant dHMN. In this paper, we describe a homozygous missense variant in FBXO38 (c.1577G>A; p.(Arg526Gln)) in a young Turkish female, offspring of consanguineous parents, with a congenital mild neuronopathy with idiopathic toe walking, normal sensory examination, and hearing loss. This work is the first to describe a novel homozygous variant and a suggested loss of function mechanism in FBXO38, expanding the dHMN type IID phenotype.

Type: Article
Title: A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s10038-019-0652-y
Publisher version: https://doi.org/10.1038/s10038-019-0652-y
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10087788
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