SOD1 D91A variant in the southernmost tip of Europeb: a heterozygous ALS patient resident on the island of Gozo
| Autor: | Adrian Pace, Ruben J. Cauchi, Maia Farrugia Wismayer, Andrew Farrugia Wismayer, Neville Vassallo |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Heterozygote
Pediatrics medicine.medical_specialty Population SOD1 Late onset Superoxide dismutase Biology Superoxide Dismutase-1 Genetics medicine Humans Amyotrophic lateral sclerosis education Genetics (clinical) Motor neurons education.field_of_study geography geography.geographical_feature_category High prevalence Amyotrophic Lateral Sclerosis medicine.disease language.human_language Europe Maltese Respiratory failure Mutation Archipelago language |
| Popis: | Amyotrophic lateral sclerosis (ALS) is frequently caused by mutations in the SOD1 gene. Here, we report the first SOD1 variant in Malta, an archipelago of three inhabited islands in southern Europe. We describe a patient with a sporadic form of ALS living on the island of Gozo in which the heterozygous SOD1 c.272A>C; p.(Asp91Ala) variant was detected. The patient had a late onset (79 years), sensory impairments and rapid disease progression culminating in respiratory failure. ALS has not yet developed in any of the three additional family members in which the D91A variant was identified. None of the healthy controls from the Maltese population were found to carry this variant. This report underscores the high prevalence of the D91A variant in Europe, despite the presence of a North-South gradient in its frequency, and confirms that this variant can be associated with dominant cases in Mediterranean countries. peer-reviewed |
| Databáze: | OpenAIRE |
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