Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene
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...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2014/248561 |
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| author | Gulden Diniz Hulya Tosun Yildirim Sarenur Gokben Gul Serdaroglu Filiz Hazan Kanay Yararbas Ajlan Tukun |
| author_facet | Gulden Diniz Hulya Tosun Yildirim Sarenur Gokben Gul Serdaroglu Filiz Hazan Kanay Yararbas Ajlan Tukun |
| author_sort | Gulden Diniz |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-618f2184db734d698034b3e6335a6d39 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-618f2184db734d698034b3e6335a6d392025-02-03T01:23:32ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/248561248561Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan GeneGulden Diniz0Hulya Tosun Yildirim1Sarenur Gokben2Gul Serdaroglu3Filiz Hazan4Kanay Yararbas5Ajlan Tukun6Neuromuscular Diseases Centre, Tepecik Research Hospital, Kibris Sehitleri Caddesi 51/11, Alsancak, 35220 Izmir, TurkeyPathology Department, Dr. Behcet Uz Children’s Research Hospital, 35210 İzmir, TurkeyPediatric Neurology Department, Faculty of Medicine, Ege University, 35100 İzmir, TurkeyPediatric Neurology Department, Faculty of Medicine, Ege University, 35100 İzmir, TurkeyMedical Genetics Department, Dr. Behcet Uz Children’s Research Hospital, 35210 Izmir, TurkeyMedical Genetics Department, Duzen Laboratories, Istanbul, TurkeyMedical Genetics Department, Duzen Laboratories, Istanbul, TurkeyLimb-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.http://dx.doi.org/10.1155/2014/248561 |
| spellingShingle | Gulden Diniz Hulya Tosun Yildirim Sarenur Gokben Gul Serdaroglu Filiz Hazan Kanay Yararbas Ajlan Tukun Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene Case Reports in Genetics |
| title | Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene |
| title_full | Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene |
| title_fullStr | Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene |
| title_full_unstemmed | Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene |
| title_short | Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene |
| title_sort | concomitant alpha and gamma sarcoglycan deficiencies in a turkish boy with a novel deletion in the alpha sarcoglycan gene |
| url | http://dx.doi.org/10.1155/2014/248561 |
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