Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants
| Autor: | Maxwell Ma, Thomas D. Bird, Dong-Hui Chen, Wendy H. Raskind |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Proband Neuromuscular disease Hyperreflexia Article 03 medical and health sciences symbols.namesake 0302 clinical medicine Atrophy medicine Amyotrophic lateral sclerosis Genetics (clinical) Exome sequencing Sanger sequencing Genetics business.industry medicine.disease Phenotype 030104 developmental biology Neurology Pediatrics Perinatology and Child Health symbols Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscul Disord |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2020.05.005 |
| Popis: | Distal hereditary motor neuropathy (dHMN) is an inherited neuromuscular disease characterized by symmetric distal weakness and atrophy without sensory changes. There are about thirty known genes associated with dHMN, but together they explain only about a third of cases. Mutations in the sigma non-opioid intracellular receptor 1 gene (SIGMAR1) have been linked to autosomal recessive dHMN with pyramidal signs in several families. This phenotype can mimic amyotrophic lateral sclerosis (ALS). We report a 39-year-old man who was referred to our ALS clinic with distal motor weakness and hyperreflexia. Whole exome sequencing identified two novel variants in the SIGMAR1 gene in the proband. Targeted Sanger sequencing of asymptomatic family members confirmed that each carried one of these two variants. Our findings expand the number of known SIGMAR1 pathogenic variants associated with dHMN, which should be clinically distinguished from ALS. |
| Databáze: | OpenAIRE |
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