A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.

• 发表时间: Jan-Dec 2021
• 来源期刊: Child Neurol Open
• DOI: 10.1177/2329048X211027438
• PMID: 34368388
• 文章类型: Case Reports
• 作者列表: Derksen A,Mirchi A,Tran LT,Cao-Lei L,Oskoui M,Srour M,Poulin C, ,Bernard G

关键词: DYNC1H1; Exome sequencing; SMALED1; Spinal muscular atrophy with lower extremity predominance type 1

Abstract

Mutations in DYNC1H1 have been shown to cause spinal muscular atrophy lower extremity predominant type 1 (SMALED1), an autosomal dominant genetic neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. Here, we describe monozygotic twins, one with a more severe upper motor neuron phenotype as a result of a suspected perinatal hypoxic-ischemic event and the other presenting a typical lower motor neuron phenotype. Using exome sequencing, we identified the novel de novo variant c.752G>T; p.Arg251Leu in DYNC1H1. We thereby add this variant to the growing list of mutations in DYNC1H1 that cause SMALED1.