The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.
Limb-girdle muscular dystrophy type 2D (LGMD2D) is caused by autosomal recessive mutations in the alpha-sarcoglycan gene. The clinical, biochemical, histological, imunohistochemical and molecular genetic data in 2 Albanian siblings with LGMD2D (adhalinopathy or alpha-sarcoglycanopathy) are presented and the resemblance with Duchenne muscular dystrophy (DMD) is discussed. Both siblings had very high level of CK and a negative molecular test for DMD deletions and duplications. The muscle biopsy showed dystrophic features as well as deficiency in two different proteins, the Gamma sarcoglycan protein (-SG) and the Alpha -SG protein (-SG). DNA analysis demonstrated homozygosity for a pathogenic point mutation (574C>T) in the alpha-sarcoglycan gene, confirming the diagnosis of limb-girdle muscular dystrophy type 2D. We believe it is the first confirmed case of primary alpha-sarcoglycanopathy identified in Albania which support the assumption of a wide geographic prevalence of severe childhood onset of autosomal recessive muscular dystrophy, We show that muscle biopsy and DNA diagnosis remains the most sensitive and specific method for differential diagnosis.
Service of Medical Genetics, Faculty of Medicine and University Hospital Center "Mother Teresa", Tirana, Albania.
A
A
Babameto-Laku
M
M
Tabaku
V
V
Tashko
M
M
Cikuli
V
V
Mokini
D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005260:Female; D005828:Genetics, Population; D006720:Homozygote; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D058088:Sarcoglycanopathies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D049031:Sarcoglycans / Q000235:genetics*; D035781:Siblings
D049031:Sarcoglycans