neurogenetics

, Volume 13, Issue 4, pp 327–332

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

  • Yoshinori Tsurusaki
  • Shinji Saitoh
  • Kazuhiro Tomizawa
  • Akira Sudo
  • Naoko Asahina
  • Hideaki Shiraishi
  • Jun-ichi Ito
  • Hajime Tanaka
  • Hiroshi Doi
  • Hirotomo Saitsu
  • Noriko Miyake
  • Naomichi Matsumoto
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

Authors and Affiliations

  • Yoshinori Tsurusaki
    • 1
  • Shinji Saitoh
    • 2
  • Kazuhiro Tomizawa
    • 3
  • Akira Sudo
    • 4
  • Naoko Asahina
    • 5
  • Hideaki Shiraishi
    • 5
  • Jun-ichi Ito
    • 6
  • Hajime Tanaka
    • 7
  • Hiroshi Doi
    • 1
  • Hirotomo Saitsu
    • 1
  • Noriko Miyake
    • 1
  • Naomichi Matsumoto
    • 1
  1. 1.Department of Human GeneticsYokohama City University Graduate School of MedicineYokohamaJapan
  2. 2.Department of Pediatrics and Neonatology, Graduate School of Medical SciencesNagoya City UniversityNagoyaJapan
  3. 3.Department of PediatricsNakashibetsu Town HospitalNakashibetsuJapan
  4. 4.Department of PediatricsSapporo City General HospitalSapporoJapan
  5. 5.Department of Pediatrics, Hokkaido University Graduate School of MedicineSapporoJapan
  6. 6.Department of PediatricsTaiyo no SonoDateJapan
  7. 7.Department of PediatricsAsahikawa Habilitation Center for Disabled ChildrenAsahikawaJapan