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

作者：Tsurusaki Yoshinori; Saitoh Shinji; Tomizawa Kazuhiro; Sudo Akira; Asahina Naoko; Shiraishi Hideaki; Ito Jun ichi; Tanaka Hajime; Doi Hiroshi; Saitsu Hirotomo; Miyake Noriko; Matsumoto Naomichi^*

来源：Neurogenetics, 2012, 13(4): 327-332.

DOI：10.1007/s10048-012-0337-6

• Spinal muscular atrophy with lower extremity predominance
• DYNC1H1
• Whole-exome sequencing
• Charcot-Marie-Tooth disease
• Allelic disease

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 %26gt; 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.

• 出版日期2012-11