Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures
by
Iván Landires 1,2,3
, Virginia Núñez-Samudio 1, Julián Fernandez 2, Cesar Sarria 2, Víctor Villareal 2, Fernando Córdoba 2, Giovanni Apráez-Ippolito 2, Samuel Martínez 2, Oscar M. Vidal 4, Jorge I. Vélez 4, Mauricio Arcos-Holzinger 1, Sergio Landires 5 and Mauricio Arcos-Burgos 6,*
Iván Landires 1,2,3, Virginia Núñez-Samudio 1, Julián Fernandez 2, Cesar Sarria 2, Víctor Villareal 2, Fernando Córdoba 2, Giovanni Apráez-Ippolito 2, Samuel Martínez 2, Oscar M. Vidal 4, Jorge I. Vélez 4, Mauricio Arcos-Holzinger 1, Sergio Landires 5 and Mauricio Arcos-Burgos 6,*
1
Instituto de Ciencias Médicas, Las Tablas, Los Santos 0710, Panama
2
Fundación José María Delgado-Paredes para Promover la Investigación en Medicina, Popayán, Colombia
3
Centro Regional Universitario de Azuero, CRUA, Universidad de Panamá, Chitré 0601, Herrera, Panama
4
Universidad del Norte, Barranquilla 080008, Colombia
5
Centro Integral de Radiodiagnóstico, Chitré 0601, Herrera, Panama
6
Grupo de Investigación en Psiquiatría (GIPSI), Departamento de Psiquiatría, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín 050010, Colombia
*
Author to whom correspondence should be addressed.
Genes 2020, 11(2), 129; https://doi.org/10.3390/genes11020129 (registering DOI)
Received: 20 October 2019 / Revised: 17 December 2019 / Accepted: 20 January 2020 / Published: 25 January 2020
(This article belongs to the Section Human Genomics and Genetic Diseases)
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’ 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.
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Keywords:
calpain 3-related, limb-girdle muscular dystrophy type r1; calpain gene; calpainopathy; Emery–Dreifuss-like syndrome; novel mutation; deletion; clinical presentation; Amerindian populations; founder effect
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MDPI and ACS Style
Landires, I.; Núñez-Samudio, V.; Fernandez, J.; Sarria, C.; Villareal, V.; Córdoba, F.; Apráez-Ippolito, G.; Martínez, S.; Vidal, O.M.; Vélez, J.I.; Arcos-Holzinger, M.; Landires, S.; Arcos-Burgos, M. Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures. Genes 2020, 11, 129.
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