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Case Reports
. 2012 Nov;13(4):327-32.
doi: 10.1007/s10048-012-0337-6. Epub 2012 Jul 31.

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

Yoshinori Tsurusaki  1 , Shinji Saitoh, Kazuhiro Tomizawa, Akira Sudo, Naoko Asahina, Hideaki Shiraishi, Jun-Ichi Ito, Hajime Tanaka, Hiroshi Doi, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto
Affiliations
Case Reports

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

Yoshinori Tsurusaki et al. Neurogenetics. 2012 Nov.

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.

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