Targeted next-generation sequencing expands the spectrum of mitochondrial disorders

被引：4
作者：
Hahn, Si Houn [1 ]
机构：
[1] Univ Washington, Sch Med, Div Med Genet, Seattle Childrens Hosp,Dept Pediat, Seattle, WA 98105 USA
来源：
GENOME MEDICINE | 2012年 / 4卷
关键词：
Heterogeneity; mitochondria; mitochondrial disorders; mutations; next-generation sequencing;
D O I：
10.1186/gm321
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Next-generation sequencing has become a powerful tool for testing genetically and clinically heterogeneous conditions such as mitochondrial disorders. A recent study published in Science Translational Medicine underscores the considerable clinical benefits of targeted next-generation sequencing for the diagnosis of mitochondrial disorders. The findings also suggest that the genetic heterogeneity that can result in mitochondrial disease appears much broader than previously thought.
引用
收藏
页数：3
相关论文
共 10 条
  • [1] Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
    Bell, Callum J.
    Dinwiddie, Darrell L.
    Miller, Neil A.
    Hateley, Shannon L.
    Ganusova, Elena E.
    Mudge, Joann
    Langley, Ray J.
    Zhang, Lu
    Lee, Clarence C.
    Schilkey, Faye D.
    Sheth, Vrunda
    Woodward, Jimmy E.
    Peckham, Heather E.
    Schroth, Gary P.
    Kim, Ryan W.
    Kingsmore, Stephen F.
    [J]. SCIENCE TRANSLATIONAL MEDICINE, 2011, 3 (65)
  • [2] Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
    Calvo, Sarah E.
    Compton, Alison G.
    Hershman, Steven G.
    Lim, Sze Chern
    Lieber, Daniel S.
    Tucker, Elena J.
    Laskowski, Adrienne
    Garone, Caterina
    Liu, Shangtao
    Jaffe, David B.
    Christodoulou, John
    Fletcher, Janice M.
    Bruno, Damien L.
    Goldblatt, Jack
    DiMauro, Salvatore
    Thorburn, David R.
    Mootha, Vamsi K.
    [J]. SCIENCE TRANSLATIONAL MEDICINE, 2012, 4 (118)
  • [3] The Mitochondrial Proteome and Human Disease
    Calvo, Sarah E.
    Mootha, Vamsi K.
    [J]. ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 11, 2010, 11 : 25 - 44
  • [4] Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans
    Chen, Xiulian
    Thorburn, David R.
    Wong, Lee-Jun
    Vladutiu, Georgirene D.
    Haas, Richard H.
    Le, Thuy
    Hoppel, Charles
    Sedensky, Margaret
    Morgan, Philip
    Hahn, Si Houn
    [J]. GENETICS IN MEDICINE, 2011, 13 (09) : 794 - 799
  • [5] Massively parallel sequencing and rare disease
    Ng, Sarah B.
    Nickerson, Deborah A.
    Bamshad, Michael J.
    Shendure, Jay
    [J]. HUMAN MOLECULAR GENETICS, 2010, 19 : R119 - R124
  • [6] Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options
    Nouws, Jessica
    Nijtmans, Leo G. J.
    Smeitink, Jan A.
    Vogel, Rutger O.
    [J]. BRAIN, 2012, 135 : 12 - 22
  • [7] Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes
    Scharfe, Curt
    Lu, Henry Horng-Shing
    Neuenburg, Jutta K.
    Allen, Edward A.
    Li, Guan-Cheng
    Klopstock, Thomas
    Cowan, Tina M.
    Enns, Gregory M.
    Davis, Ronald W.
    [J]. PLOS COMPUTATIONAL BIOLOGY, 2009, 5 (04)
  • [8] Next-Generation Sequencing in Molecular Diagnosis: NUBPL Mutations Highlight the Challenges of Variant Detection and Interpretation
    Tucker, Elena J.
    Mimaki, Masakazu
    Compton, Alison G.
    McKenzie, Matthew
    Ryan, Michael T.
    Thorburn, David R.
    [J]. HUMAN MUTATION, 2012, 33 (02) : 411 - 418
  • [9] Recent Advances in the Genetics of Mitochondrial Encephalopathies
    Tucker, Elena J.
    Compton, Alison G.
    Thorburn, David R.
    [J]. CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2010, 10 (04) : 277 - 285
  • [10] Next generation sequence analysis for mitochondrial disorders
    Vasta, Valeria
    Ng, Sarah B.
    Turner, Emily H.
    Shendure, Jay
    Hahn, Si Houn
    [J]. GENOME MEDICINE, 2009, 1
1