Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation

Neurological Sciences

Volumn 36, Issue 11, 2015, Pages 2011-2017

  Zamani, Gholam Reza ^a,c   Karami, Fatemeh ^a   Mehdizadeh, Mahshid ^b   Movafagh, Abolfazl ^b   Nilipour, Yalda ^b   Zamani, Mahdi ^a,c  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

BMD; DMD; MLPA; Multiplex PCR; Mutation

Indexed keywords

DYSTROPHIN; STOP CODON;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CONTROLLED STUDY; DNA SEQUENCE; DYSTROPHIN GENE; EXON; GENE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN TISSUE; IRANIAN (CITIZEN); MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUSCLE BIOPSY; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PHENOTYPE; CHILD; DUCHENNE MUSCULAR DYSTROPHY; GENETICS; IRAN; MALE; PROCEDURES; RETROSPECTIVE STUDY; STOP CODON;

CHILD; CODON, NONSENSE; EXONS; GENE DELETION; HUMANS; IRAN; MALE; MUSCULAR DYSTROPHY, DUCHENNE; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA;

EID: 84945490937     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-015-2290-2     Document Type: Article

References (28)

1. Landfeldt E et al (2014) The burden of Duchenne muscular dystrophy: an international, cross-sectional study. Neurology 83(6):529–536
2. Mampel A et al (2011) Numeric alterations in the dys gene and their association with clinical features. Medicina (B Aires) 71(2):151–157
3. Lee BL et al (2012) Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea. J Korean Med Sci 27(3):274–280
4. Hermanova M et al (2002) Detection of carriers of Duchenne and Becker muscular dystrophy using the fluorescence in situ hybridization method. Cesk Patol 38(1):18–23
5. Velazquez-Wong AC et al (2008) Identification of duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR. Genet Test 12(2):221–223
6. Chamberlain JS et al (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16(23):11141–11156
7. Stockley TL et al (2006) Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genet Test 10(4):229–243
8. Nishiyama A et al (2008) Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. Ann Hum Genet 72(6):717–724
9. Lim BC et al (2011) Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. J Med Genet 48(11):731–736
10. Odinokova ON et al (1996) Deletion analysis of the dystrophin gene in patients with Duchenne’s muscular dystrophy in Tajikistan. Genetika 32(10):1392–1395
11. Mah JK et al (2011) A population-based study of dystrophin mutations in Canada. Can J Neurol Sci 38(3):465–474
12. Walmsley GL et al (2010) A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient Cavalier King Charles Spaniels is amenable to exon 51 skipping. PLoS ONE 5(1):e8647
13. Hassan MJ et al (2008) Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne muscular dystrophy patients. Pediatr Int 50(2):162–166
14. Melis MA et al (1998) Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. Eur J Paediatr Neurol 2(5):255–261
15. Muntoni F, Torelli S, Ferlini A (2003) Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2(12):731–740
16. Henderson DM, Lee A, Ervasti JM (2010) Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation. Proc Natl Acad Sci USA 107(21):9632–9637
17. Prior TW et al (1993) A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nat Genet 4(4):357–360
18. Curtis A, Haggerty D (2001) Deletion and duplication analysis in males affected with Duchenne or Becker muscular dystrophy. Methods Mol Med 43:53–84
19. Khordadpoor-Deilamani F et al (2011) Dystrophin gene mutation analysis in Iranian males and females using multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification methods. Genet Test Mol Biomarkers 15(12):893–899
20. Fenollar-Cortes M et al (2008) Two non-contiguous duplications in the DMD gene in a Spanish family. J Neurogenet 22(1):93–101
21. Li H et al (2009) Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26(3):318–322
22. Janssen B et al (2005) MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 6(1):29–35
23. Beggs AH et al (1990) Detection of 98 % of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86(1):45–48
24. Hwa HL et al (2007) Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects. J Formos Med Assoc 106(5):339–346
25. Kwiatkowski M, Nilsson M, Landegren U (1996) Synthesis of full-length oligonucleotides: cleavage of apurinic molecules on a novel support. Nucleic Acids Res 24(23):4632–4638
26. Malayeri FA et al (2011) Detection of Duchenne/Becker muscular dystrophy carriers in a group of Iranian families by linkage analysis. Acta Med Iran 49(3):142–148
27. Nouri N et al (2014) Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset. Adv Biomed Res 3:72
28. van Deutekom JC et al (2007) Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 357(26):2677–2686