Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures

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...

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Bibliographic Details
Published in:Genes 2020-01, Vol.11 (2), p.129
Main Authors: Landires, Iván, Núñez-Samudio, Virginia, Fernandez, Julián, Sarria, Cesar, Villareal, Víctor, Córdoba, Fernando, Apráez-Ippolito, Giovanni, Martínez, Samuel, Vidal, Oscar M, Vélez, Jorge I, Arcos-Holzinger, Mauricio, Landires, Sergio, Arcos-Burgos, Mauricio
Format: Article
Language:English
Subjects:
Adolescent
Adult
Calpain - genetics
Child
Exons - genetics
Family
Female
Homozygote
Humans
Male
Muscle Proteins - genetics
Muscular Dystrophies - genetics
Muscular Dystrophies, Limb-Girdle - genetics
Muscular Dystrophies, Limb-Girdle - metabolism
Mutation - genetics
Pedigree
Phenotype
Sequence Deletion - genetics
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Summary: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 ( ) (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' distal muscles in a way that resembled Emery-Dreifuss syndrome. We recommend mandatory screening for calpainopathy in all patients with an Emery-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.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes11020129