publication . Article . 2018

A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia.

Jin Tang; Xueqin Song; Guang Ji; Hongran Wu; Shuyan Sun; Shan Lu; Yuan Li; Chi Zhang; Huiqing Zhang;
Open Access English
  • Published: 01 Jun 2018 Journal: Medicine, volume 97, issue 24 (issn: 0025-7974, eissn: 1536-5964, Copyright policy)
  • Publisher: Wolters Kluwer Health
Abstract
Abstract This study was aimed to detect a new mutation responsible for X-linked dilated cardiomyopathy with hyper-CKemia. We studied a proband who presented with cardiac symptoms with hyper-CKemia, but no clinical skeletal involvement in physical examination, laboratory tests, electromyography, echocardiography, and magnetic resonance imaging (MRI) of cardiac muscles. Muscle biopsy for histopathology and immunohistochemistry for accessing sarcolemma changes. The next-generation sequencing and bioinformatics analysis were performed on the patient and Sanger sequencing was confirmed on the other 6 unaffected families. The clinic investigations illustrated a dilate...
Subjects
free text keywords: 5300, Research Article, Observational Study, dilated cardiomyopathy, dystrophin gene, next-generation sequencing, novel splicing mutation, General Medicine, Medicine, business.industry, business, RNA splicing, X-linked dilated cardiomyopathy, Physical therapy, medicine.medical_specialty, Bioinformatics, Diabetes mellitus, medicine.disease, Text mining, Mutation, medicine.disease_cause
Related Organizations
33 references, page 1 of 3

[1]Anand A Vinish M Prabhakar S A case of manifesting carrier with DMD phenotype. Acta Medica (Hradec Kralove)2009;52:167–70.20369712 [PubMed]

[2]Ahn AH Kunkel LM The structural and functi onal diversity of dystrophin. Nat Genet 1993;3:283–91.7981747 [PubMed]

[3]Campbell KP Kahl SD Association of dystrophin and an integral membrane glycoprotein. Nature 1989;338:259–62.2493582 [OpenAIRE] [PubMed]

[4]Davies KE Nowak KJ Molecular mechanisms of muscular dystrophies: old and new players. Nat Rev Mol Cell Biol 2006;7:762–73.16971897 [PubMed]

[5]Muntoni F Wilson L Marrosu G A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest 1995;96:693–9.7635962 [OpenAIRE] [PubMed]

[6]Boyce FM Beggs AH Feener C Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci U S A 1991;88:1276–80.1996328 [OpenAIRE] [PubMed]

[7]Górecki DC Monaco AP Derry JM Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet 1992;1:505–10.1307251 [OpenAIRE] [PubMed]

[8]Holder E Maeda M Bies RD Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain. Hum Genet 1996;97:232–9.8566960 [PubMed]

[9]Koenig M Beggs AH Moyer M The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 1989;45:498–506.2491009 [OpenAIRE] [PubMed]

[10]Beggs AH Hoffman EP Snyder JR Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991;49:54–67.2063877 [OpenAIRE] [PubMed]

[11]Monaco AP Bertelson CJ Liechti-Gallati S An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90–5.3384440 [OpenAIRE] [PubMed]

[12]Towbin JA Hejtmancik JF Brink P X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993;87:1854–65.8504498 [PubMed]

[13]Cohen N Muntoni F Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart 2004;90:835–41.15253946 [OpenAIRE] [PubMed]

[14]Diegoli M Grasso M Favalli V Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. J Am Coll Cardiol 2011;58:925–34.21851881 [OpenAIRE] [PubMed]

[15]Yoshida K Ikeda S Nakamura A Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve 1993;16:1161–6.8413368 [PubMed]

33 references, page 1 of 3
Abstract
Abstract This study was aimed to detect a new mutation responsible for X-linked dilated cardiomyopathy with hyper-CKemia. We studied a proband who presented with cardiac symptoms with hyper-CKemia, but no clinical skeletal involvement in physical examination, laboratory tests, electromyography, echocardiography, and magnetic resonance imaging (MRI) of cardiac muscles. Muscle biopsy for histopathology and immunohistochemistry for accessing sarcolemma changes. The next-generation sequencing and bioinformatics analysis were performed on the patient and Sanger sequencing was confirmed on the other 6 unaffected families. The clinic investigations illustrated a dilate...
Subjects
free text keywords: 5300, Research Article, Observational Study, dilated cardiomyopathy, dystrophin gene, next-generation sequencing, novel splicing mutation, General Medicine, Medicine, business.industry, business, RNA splicing, X-linked dilated cardiomyopathy, Physical therapy, medicine.medical_specialty, Bioinformatics, Diabetes mellitus, medicine.disease, Text mining, Mutation, medicine.disease_cause
Related Organizations
33 references, page 1 of 3

[1]Anand A Vinish M Prabhakar S A case of manifesting carrier with DMD phenotype. Acta Medica (Hradec Kralove)2009;52:167–70.20369712 [PubMed]

[2]Ahn AH Kunkel LM The structural and functi onal diversity of dystrophin. Nat Genet 1993;3:283–91.7981747 [PubMed]

[3]Campbell KP Kahl SD Association of dystrophin and an integral membrane glycoprotein. Nature 1989;338:259–62.2493582 [OpenAIRE] [PubMed]

[4]Davies KE Nowak KJ Molecular mechanisms of muscular dystrophies: old and new players. Nat Rev Mol Cell Biol 2006;7:762–73.16971897 [PubMed]

[5]Muntoni F Wilson L Marrosu G A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest 1995;96:693–9.7635962 [OpenAIRE] [PubMed]

[6]Boyce FM Beggs AH Feener C Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci U S A 1991;88:1276–80.1996328 [OpenAIRE] [PubMed]

[7]Górecki DC Monaco AP Derry JM Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet 1992;1:505–10.1307251 [OpenAIRE] [PubMed]

[8]Holder E Maeda M Bies RD Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain. Hum Genet 1996;97:232–9.8566960 [PubMed]

[9]Koenig M Beggs AH Moyer M The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 1989;45:498–506.2491009 [OpenAIRE] [PubMed]

[10]Beggs AH Hoffman EP Snyder JR Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991;49:54–67.2063877 [OpenAIRE] [PubMed]

[11]Monaco AP Bertelson CJ Liechti-Gallati S An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90–5.3384440 [OpenAIRE] [PubMed]

[12]Towbin JA Hejtmancik JF Brink P X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993;87:1854–65.8504498 [PubMed]

[13]Cohen N Muntoni F Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart 2004;90:835–41.15253946 [OpenAIRE] [PubMed]

[14]Diegoli M Grasso M Favalli V Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. J Am Coll Cardiol 2011;58:925–34.21851881 [OpenAIRE] [PubMed]

[15]Yoshida K Ikeda S Nakamura A Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve 1993;16:1161–6.8413368 [PubMed]

33 references, page 1 of 3
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publication . Article . 2018

A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia.

Jin Tang; Xueqin Song; Guang Ji; Hongran Wu; Shuyan Sun; Shan Lu; Yuan Li; Chi Zhang; Huiqing Zhang;