Milder forms of alpha-sarcoglicanopathies diagnosed in adulthood by NGS analysis
Por:
Cantero, D, Hernandez-Lain, A, Martinez, JFG, Perez, MR, Ruano, Y, Lleixa, C, Gallardo, E, Dominguez-Gonzalez, C
Publicada:
15 nov 2018
Resumen:
Introduction: Sarcoglycanopathies (LGMD 2C-2F) are a subgroup of limb-girdle muscular dystrophies (LGMD), caused by mutations in sarcoglycan genes. They usually have a childhood onset and rapidly progressive course with loss of ability to walk over 12-16 years.
Methods: Next generation sequencing (NGS) targeted gene panel was performed in three adult patients with progressive muscle weakness in which routine muscle histology and immunohistochemistry were not diagnostic.
Results: Genetic analysis revealed homozygous or compound heterozygous mutations in SGCA gene and Western Blot demonstrated protein reduction confirming the diagnosis of alpha-sarcoglicanopathy.
Discussion: Our cases evidence that the diagnosis of mild forms of alfa sarcoglicanopathy could be a challenge and suggest the possibility that they could be underdiagnosed. The use of Next generation Sequencing targeted gene panels is very helpful in the diagnosis of these patients.
Filiaciones:
Cantero, D:
12 Octubre Univ Hosp, Dept Pathol Neuropathol, Avda Cordoba S-N, Madrid 28041, Spain
Hosp Octubre I 12, Res Inst, Madrid, Spain
Hernandez-Lain, A:
12 Octubre Univ Hosp, Dept Pathol Neuropathol, Avda Cordoba S-N, Madrid 28041, Spain
Hosp Octubre I 12, Res Inst, Madrid, Spain
Martinez, JFG:
12 Octubre Univ Hosp, Dept Neurol, Neuromuscular Unit, Avda Cordoba S-N, Madrid 28041, Spain
Perez, MR:
Hosp Fuenlabrada, Dept Neurol, Madrid, Spain
Ruano, Y:
12 Octubre Univ Hosp, Dept Pathol Neuropathol, Avda Cordoba S-N, Madrid 28041, Spain
Hosp Octubre I 12, Res Inst, Madrid, Spain
Lleixa, C:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Inst Recerca, Lab Neuromuscular Disorders, Barcelona, Spain
Univ Autonoma Barcelona, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain
Gallardo, E:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Inst Recerca, Lab Neuromuscular Disorders, Barcelona, Spain
Univ Autonoma Barcelona, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain
Dominguez-Gonzalez, C:
12 Octubre Univ Hosp, Dept Neurol, Neuromuscular Unit, Avda Cordoba S-N, Madrid 28041, Spain
Res Inst Hosp 12 Octubre I 12, Spanish Network Biomed Res Rare Dis CIBERER, U723, Madrid, Spain
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