Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina.
Immunohistochemical and DNA results are described in a patient with sarcoglycanopathy. Immunostaining was comparatively normal for alpha-, attenuated for beta- and delta-, and markedly attenuated for gamma-sarcoglycan, thus sarcoglycanopathy was diagnosed, presumably a gamma-sarcoglycanopathy. Unexpectedly, two alpha-SGP-related pathogenic mutations were identified in compound heterozygosity in the SGCA gene: c.229C > T (p.Arg77Cys) in exon 3 and c.850C > T (p.Arg284Cys) in exon 7. These are discussed together with six additional changes detected in SGCB, SGCG and SGCD.
Avila De Salman
S
S
Servicio de Genética, Hospital Provincial Neuquén, Neuquén, Argentina. silviaavila@speedy.com.ar
Taratuto
A L
AL
Dekomien
G
G
Carrero-Valenzuela
R
R
D000293:Adolescent; D001118:Argentina; D001120:Arginine; D003545:Cysteine; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D009154:Mutation; D049031:Sarcoglycans / Q000172:deficiency / Q000235:genetics*
D049031:Sarcoglycans; D001120:Arginine; D003545:Cysteine