title: Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene.
abstract: Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the alpha-sarcoglycan gene located on chromosome 17q21. In this study, we present a child with alpha-sarcoglycanopathy and describe a novel deletion in the alpha-sarcoglycan gene. A 5-year-old boy had a very high serum creatinine phosphokinase level, which was determined incidentally, and a negative molecular test for the dystrophin gene. Muscle biopsy showed dystrophic features. Immunohistochemistry showed that there was diminished expression of alpha- and gamma-sarcoglycans. DNA analysis revealed a novel 7 bp homozygous deletion in exon 3 of the alpha-sarcoglycan gene. His parents were consanguineous heterozygous carriers of the same deletion. We believe this is the first confirmed case of primary alpha-sarcoglycanopathy with a novel deletion in Turkey. In addition, this study demonstrated that both muscle biopsy and DNA analysis remain important methods for the differential diagnosis of muscular dystrophies because dystrophinopathies and sarcoglycanopathies are so similar.
authors: Neuromuscular Diseases Centre, Tepecik Research Hospital, Kibris Sehitleri Caddesi 51/11, Alsancak, 35220 Izmir, Turkey.
authors: Gulden
authors: 0000-0003-1512-7584
authors: G
authors: Diniz
authors: Pathology Department, Dr. Behcet Uz Children's Research Hospital, 35210 İzmir, Turkey.
authors: Hulya
authors: H
authors: Tosun Yildirim
authors: Pediatric Neurology Department, Faculty of Medicine, Ege University, 35100 İzmir, Turkey.
authors: Sarenur
authors: S
authors: Gokben
authors: Pediatric Neurology Department, Faculty of Medicine, Ege University, 35100 İzmir, Turkey.
authors: Gul
authors: G
authors: Serdaroglu
authors: Medical Genetics Department, Dr. Behcet Uz Children's Research Hospital, 35210 Izmir, Turkey.
authors: Filiz
authors: F
authors: Hazan
authors: Medical Genetics Department, Duzen Laboratories, Istanbul, Turkey ; Medical Genetics Department, Duzen Laboratories, Ankara, Turkey.
authors: Kanay
authors: K
authors: Yararbas
authors: Medical Genetics Department, Duzen Laboratories, Istanbul, Turkey ; Medical Genetics Department, Duzen Laboratories, Ankara, Turkey ; Medical Genetics Department, Faculty of Medicine, Ankara University, 06100 Ankara, Turkey.
authors: Ajlan
authors: A
authors: Tukun