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J Hum Genet. 2019 Aug 17. doi: 10.1038/s10038-019-0652-y. [Epub ahead of print]

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

Author information

1
Department of Molecular Biology and Genetics, Neurodegeneration Research Laboratory (NDAL), Boğaziçi University, Istanbul, Turkey.
2
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, School of Medicine, Koç University Translational Medicine Research Center, Istanbul, Turkey.
3
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
4
Department of Molecular Neuroscience, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
5
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, School of Medicine, Koç University Translational Medicine Research Center, Istanbul, Turkey. nbasak@ku.edu.tr.

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.

PMID:
31420593
DOI:
10.1038/s10038-019-0652-y

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