Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures
| Autor: | Julián Fernandez, Víctor Villareal, Oscar M. Vidal, Sergio Landires, Samuel Martínez, Iván Landires, Giovanni Apraez-Ippolito, Virginia Núñez-Samudio, Mauricio Arcos-Burgos, Mauricio Arcos-Holzinger, Fernando Córdoba, Cesar Sarria, Jorge I. Vélez |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Male Pathology clinical presentation Muscle Proteins medicine.disease_cause Muscular Dystrophies Bilateral talipes equinovarus Exon 0302 clinical medicine deletion Muscular dystrophy Child Genetics (clinical) Sequence Deletion Mutation biology Calpain Homozygote Exons calpainopathy Pedigree founder effect Phenotype Female Emery–Dreifuss-like syndrome Adult medicine.medical_specialty Clubfoot lcsh:QH426-470 Adolescent Amerindian populations Article 03 medical and health sciences Genetics medicine calpain gene Humans Family Muscle contracture business.industry medicine.disease calpain 3-related limb-girdle muscular dystrophy type r1 lcsh:Genetics 030104 developmental biology Muscular Dystrophies Limb-Girdle biology.protein novel mutation business 030217 neurology & neurosurgery Founder effect |
| Zdroj: | Genes Genes, Vol 11, Iss 2, p 129 (2020) Volume 11 Issue 2 |
| ISSN: | 2073-4425 |
| Popis: | Presented here are five members of a family that was ascertained from an isolated, consanguineous, indigenous Amerindian community in Colombia that was affected with calpain 3-related, limb-girdle muscular dystrophy type R1. These patients are homozygous for a unique and novel deletion of four bases (TGCC) in exon 3 of the calpain 3 gene (CAPN3) (NM_000070.2 NP_000061.1) (g.409_412del). The mutation site occurs at the CysPc protein domain, triggering a modified truncated protein structure and affecting motifs within the calpain-like thiol protease family (peptidase family C2) region. The patients reported here developed a very severe phenotype with primary contractures, spinal rigidity in the early stages of the disease, and bilateral talipes equinovarus (clubfoot) in the most affected patients who had the selective involvement of their extremities&rsquo distal muscles in a way that resembled Emery&ndash Dreifuss syndrome. We recommend mandatory screening for calpainopathy in all patients with an Emery&ndash Dreifuss-like syndrome or those presenting a non-congenital illness with primary contractures and who, because of other data, are suspected of having muscular dystrophy. |
| Databáze: | OpenAIRE |
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