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

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SCHOOL OF MEDICINE
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Akcimen, Fulya
Durmus, Hacer
Cakar, Arman
Houlden, Henry
Parman, Yesim G.

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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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Nature Publishing Group (NPG)

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Genetics, Heredity

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Journal of Human Genetics

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10.1038/s10038-019-0652-y

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