neurogenetics

, Volume 13, Issue 4, pp 327–332

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

Authors

  • Yoshinori Tsurusaki
    • Department of Human GeneticsYokohama City University Graduate School of Medicine
    • Department of Pediatrics and Neonatology, Graduate School of Medical SciencesNagoya City University
  • Kazuhiro Tomizawa
    • Department of PediatricsNakashibetsu Town Hospital
  • Akira Sudo
    • Department of PediatricsSapporo City General Hospital
  • Naoko Asahina
    • Department of Pediatrics, Hokkaido University Graduate School of Medicine
  • Hideaki Shiraishi
    • Department of Pediatrics, Hokkaido University Graduate School of Medicine
  • Jun-ichi Ito
    • Department of PediatricsTaiyo no Sono
  • Hajime Tanaka
    • Department of PediatricsAsahikawa Habilitation Center for Disabled Children
  • Hiroshi Doi
    • Department of Human GeneticsYokohama City University Graduate School of Medicine
  • Hirotomo Saitsu
    • Department of Human GeneticsYokohama City University Graduate School of Medicine
  • Noriko Miyake
    • Department of Human GeneticsYokohama City University Graduate School of Medicine
    • Department of Human GeneticsYokohama City University Graduate School of Medicine
Short Communication

DOI: 10.1007/s10048-012-0337-6

Cite this article as:
Tsurusaki, Y., Saitoh, S., Tomizawa, K. et al. Neurogenetics (2012) 13: 327. doi:10.1007/s10048-012-0337-6

Abstract

Whole-exome sequencing of two affected sibs and their mother who showed a unique quadriceps-dominant form of neurogenic muscular atrophy disclosed a heterozygous DYNC1H1 mutation [p.H306R (c.917A>G)]. The identical mutation was recently reported in a pedigree with the axonal form of Charcot–Marie–Tooth disease. Three other missense mutations in DYNC1H1 were also identified in families with dominant spinal muscular atrophy with lower extremity predominance. Their clinical features were consistent with those of our family. Our study has demonstrated that the same DYNC1H1 mutation could cause spinal muscular atrophy as well as distal neuropathy, indicating pleotropic effects of the mutation.

Keywords

Spinal muscular atrophy with lower extremity predominanceDYNC1H1Whole-exome sequencingCharcot–Marie–Tooth diseaseAllelic disease

Copyright information

© Springer-Verlag 2012