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Publication Detail
A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Akçimen F, Vural A, Durmuş H, Çakar A, Houlden H, Parman YG, Nazlı Başak A
  • Publication date:
    17/08/2019
  • Journal:
    Journal of Human Genetics
  • Status:
    Published
  • Print ISSN:
    1434-5161
Abstract
© 2019, The Author(s), under exclusive licence to The Japan Society of Human Genetics. 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.
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