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 Y. G. , ...Daha Fazla

Journal of human genetics, cilt.64, ss.1141-1144, 2019 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 64 Konu: 11
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1038/s10038-019-0652-y
  • Dergi Adı: Journal of human genetics
  • Sayfa Sayıları: ss.1141-1144

Özet

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.