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Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

 Ha Young Shin  ;  Hoon Jang  ;  Joo Hyung Han  ;  Hyung Jun Park  ;  Jung Hwan Lee  ;  So Won Kim  ;  Seung Min Kim  ;  Young-Eun Park  ;  Dae-Seong Kim  ;  Duhee Bang  ;  Min Goo Lee  ;  Ji Hyun Lee  ;  Young-Chul Choi 
 NEUROMUSCULAR DISORDERS, Vol.25(6) : 502-510, 2015 
Journal Title
Issue Date
Adolescent ; Adult ; Child ; DNA Mutational Analysis* ; Dysferlin ; Female ; High-Throughput Nucleotide Sequencing* ; Humans ; Male ; Membrane Proteins/genetics* ; Muscle Proteins/genetics* ; Muscular Dystrophies, Limb-Girdle/diagnosis* ; Muscular Dystrophies, Limb-Girdle/genetics* ; Young Adult
DYSF ; Dysferlinopathy ; Hybridization capture ; Mutation ; Next-generation sequencing
Dysferlinopathy comprises a group of autosomal recessive muscular dystrophies caused by mutations in the DYSF gene. Due to the large size of the gene and its lack of mutational hot spots, analysis of the DYSF gene is time-consuming and laborious using conventional sequencing methods. By next-generation sequencing (NGS), DYSF gene analysis has previously been validated through its incorporation in multi-gene panels or exome analyses. However, individual validation of NGS approaches for DYSF gene has not been performed. Here, we established and validated a hybridization capture-based target-enrichment followed by next-generation sequencing to detect mutations in patients with dysferlinopathy. With this approach, mean depth of coverage was approximately 450 fold and almost all (99.3%) of the targeted region had sequence coverage greater than 20 fold. When this approach was tested on samples from patients with known DYSF mutations, all known mutations were correctly retrieved. Using this method on 32 consecutive patient samples with dysferlinopathy, at least two pathogenic variants were detected in 28 (87.5%) samples and at least one pathogenic variant was identified in all samples. Our results suggested that the NGS-based screening method could facilitate efficient and accurate genetic diagnosis of dysferlinopathy.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Shin, Ha Young(신하영) ORCID logo https://orcid.org/0000-0002-4408-8265
Lee, Min Goo(이민구) ORCID logo https://orcid.org/0000-0001-7436-012X
Lee, Jung Hwan(이정환)
Lee, Ji Hyun(이지현)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
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