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. 2015 Jul 16;1(2):e20.
doi: 10.1212/NXG.0000000000000017. eCollection 2015 Aug.

A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance

Qi Niu  1 , Xingxia Wang  1 , Mingchao Shi  1 , Qingwen Jin  1
Affiliations

A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance

Qi Niu et al. Neurol Genet. .

Abstract

Recent studies have identified mutations in the dynein heavy chain gene (DYNC1H1), which lead to 2 closely related human motor neuropathies: a dominant spinal muscular atrophy with lower extremity predominance (SMALED) and axonal Charcot-Marie-Tooth (CMT) disease.(1,2) We describe the identification of a novel mutation (p.G807S) in DYNC1H1 as the cause of SMALED.

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Figures

Figure
Figure. DYNC1H1 mutation in pedigree with dominant spinal muscular atrophy and effect on the dynein complex
(A) The pedigree of a family with a dominant spinal muscular atrophy with lower extremity predominance. The proband is marked by an arrow. (B) Alignment of the DYNC1H1 protein showing high conservation of the mutated position in exon 8 of DYNC1H1. (C) Dynein from the proband and his parents' fibroblasts were incubated with microtubules in the presence of adenosine triphosphate. After centrifugation, binding of dynein was assessed by immunoblotting for intermediate chain using mouse monoclonal to dynein intermediate chain 1 antibody (ab6304, Abcam). Glyceraldehyde 3-phosphate dehydrogenase was used as internal control. Line 1: mother; line 2: father; line 3: proband.
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