Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: A multi-population diagnostic study

European Journal of Human Genetics

Volumn 22, Issue 1, 2014, Pages 110-118

  Wei, Xiaoming ^a   Dai, Yi ^b   Yu, Ping ^c   Qu, Ning ^a   Lan, Zhangzhang ^a   Hong, Xiafei ^d   Sun, Yan ^a   Yang, Guanghui ^a   Xie, Shuqi ^a   Shi, Quan ^a   Zhou, Hanlin ^a   Zhu, Qian ^a   Chu, Yuxing ^a   Yao, Fengxia ^b   Wang, Jinming ^a   He, Jingni ^e   Yang, Yun ^a   Liang, Yu ^a   Yang, Yi ^a   Qi, Ming ^a,f,g   Yang, Ling ^h   Wang, Wei ^a   Wu, Haitao ^a   Duan, Jing ⁱ   Shen, Cheng ^d   Wang, Jun ^a,j,k,l,m   Cui, Liying ^b   Yi, Xin ^a,h   more..

^a BGI SHENZHEN   (China)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^c ZHEJIANG UNIVERSITY   (China)

^d PEKING UNION MEDICAL COLLEGE   (China)

^e The First People s Hospital of Changde City)   (China)

^f ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^g UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^h BGI Tianjin   (China)

ⁱ INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^j UNIVERSITY OF COPENHAGEN   (Denmark)

^k KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^l University of Copenhagen   (Denmark)

^m AARHUS UNIVERSITY   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

ACCURACY; ARTICLE; BECKER MUSCULAR DYSTROPHY; COPY NUMBER VARIATION; DUCHENNE MUSCULAR DYSTROPHY; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; ADULT; GENETICS; HETEROZYGOTE DETECTION; HIGH THROUGHPUT SEQUENCING; MALE; MIDDLE AGED; MOLECULAR PATHOLOGY; MUSCULAR DYSTROPHY, DUCHENNE; NORMAL HUMAN; PATHOLOGY; POPULATION GENETICS; PRESCHOOL CHILD; PROCEDURES;

ADULT; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; FEMALE; GENETICS, POPULATION; HEALTHY VOLUNTEERS; HETEROZYGOTE; HETEROZYGOTE DETECTION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, DUCHENNE; PATHOLOGY, MOLECULAR; SEQUENCE DELETION;

EID: 84890795613     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.82     Document Type: Article

References (26)

1. Bushby K, Finkel R, Birnkrant DJ et al: Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9: 77-93.
2. Hoffman EP, Brown Jr. RH, Kunkel LM: Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-928.
3. Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT: Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 2006; 34: 135-144.
4. Lalic T, Vossen RH, Coffa J et al: Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005; 13: 1231-1234.
5. Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME: Microarray-based mutation detection in the dystrophin gene. Hum Mutat 2008; 29: 1091-1099.
6. Bennett RR, den Dunnen J, O'Brien KF, Darras BT, Kunkel LM: Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet 2001; 2: 17.
7. Flanigan KM, Dunn DM, von Niederhausern A et al: Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat 2009; 30: 1657-1666.
8. Pichavant C, Aartsma-Rus A, Clemens PR et al: Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther 2011; 19: 830-840.
9. Malik V, Rodino-Klapac LR, Viollet L et al: Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol 2010; 67: 771-780.
10. Welch EM, Barton ER, Zhuo J et al: PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007; 447: 87-91.
11. Cirak S, Arechavala-Gomeza V, Guglieri M et al: Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 2011; 378: 595-605.
12. Goemans NM, Tulinius M, van den Akker JT et al: Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med 2011; 364: 1513-1522.
13. Ng SB, Buckingham KJ, Lee C et al: Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010; 42: 30-35.
14. Calvo SE, Compton AG, Hershman SG et al: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 2012; 4: 118ra110.
15. Lim BC, Lee S, Shin JY et al: Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. J Med Genet 2011; 48: 731-736.
16. Kunkel LM, Hejtmancik JF, Caskey CT et al: Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 1986; 322: 73-77.
17. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT: Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988; 16: 11141-11156.
18. del Gaudio D, Yang Y, Boggs BA et al: Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 2008; 29: 1100-1107.
19. Hall N: Advanced sequencing technologies and their wider impact in microbiology. J Exp Biol 2007; 210: 1518-1525.
20. Xie S, Lan Z, Qu N et al: Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing. Gene 2012; 499: 139-142.
21. Chiu RW, Akolekar R, Zheng YW et al: Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011; 342: c7401.
22. Bell CJ, Dinwiddie DL, Miller NA et al: Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011; 3: 65ra64.
23. Politano L, Nigro V, Nigro G et al: Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996; 275: 1335-1338.
24. Mendell JR, Shilling C, Leslie ND et al: Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol 2012; 71: 304-313.
25. Loman NJ, Misra RV, Dallman TJ et al: Performance comparison of benchtop highthroughput sequencing platforms. Nat Biotechnol 2012; 30: 434-439.
26. Bovolenta M, Scotton C, Falzarano MS, Gualandi F, Ferlini A: Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. Hum Mutat 2012; 33: 572-581.