title: A new deletion in 5'-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers.
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.
authors.affiliation: Dipartimento di Sanità Pubblica, medicina clinica e molecolare, Università di Cagliari, Italy.
authors.forename: Milena
authors.initials: M
authors.lastname: Cau
authors.forename: Loredana
authors.initials: L
authors.lastname: Boccone
authors.forename: Anna
authors.initials: A
authors.lastname: Mateddu
authors.forename: Maria
authors.initials: M
authors.lastname: Addis
authors.forename: Marianna
authors.initials: M
authors.lastname: Serrenti
authors.forename: Roberta
authors.initials: R
authors.lastname: Chessa
authors.forename: Gianni
authors.initials: G
authors.lastname: Marrosu
authors.forename: Georgios
authors.initials: G
authors.lastname: Loudianos
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Melis
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D004576:Electromyography; D004742:Enhancer Elements, Genetic; D017353:Gene Deletion; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D011401:Promoter Regions, Genetic
chemical_list: D016189:Dystrophin