A new deletion in 5′-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers |
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Authors: | Milena Cau Loredana Boccone Anna Mateddu Maria Addis Marianna Serrenti Roberta Chessa Gianni Marrosu Georgios Loudianos Maria Antonietta Melis |
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Institution: | 1. Dipartimento di Sanità Pubblica, medicina clinica e molecolare, Università di Cagliari, Italy;2. Ospedale Regionale per le microcitemie ASL 8 Cagliari, Italy;3. Centro Sclerosi Multipla. Unità di Neurofisiologia. Ospedale Binaghi. ASL8 Cagliari, Italy |
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Abstract: | We describe a 3-year-old boy who, at age of 8 months, during investigations for upper respiratory tract infection was found to have an incidental grossly elevated CK of 20,000 UI/l. Investigations showed only mild calf hypertrophy and absent Gower's sign, normal cognitive function. Electromyography (EMG) showed myopathic features. Electrocardiography and echocardiography were normal. His muscle biopsy revealed myopathic features indicating Duchenne-type dystrophy. Immunohistochemistry for dystrophin N-terminal, C-terminal and mid-rod antibodies analysis showed the complete absence of dystrophin in the muscle fibers. Genetic studies showed a 141.1 Kb deletion removing muscle promoter, muscle exon 1, Purkinje promoter, Purkinje exon 1, dystrophin muscle enhancers similar to one previously reported in a DMD patient who exhibited some residual expression of dystrophin. The difference in dystrophin expression between these two patients might be due to the extension of deletions. The precise delimitation of the macrodeletion here described provides a better understanding of functional organization of the 5′ end of the DMD gene. |
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Keywords: | CK Creatinkinase STR Short tandem repeat IVS Intervening sequences PCR Plymerase Chain Reaction Kb Kilobase(s) or 1000 bp |
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