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GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia
- 作者：Zheng Fan (1)
Robert Greenwood (1)
Ana C. G. Felix (1)
Yael Shiloh-Malawsky (1)
Michael Tennison (1)
Myra Roche (1)
Kristy Crooks (1)
Karen Weck (1)
Kirk Wilhelmsen (1)
Jonathan Berg (1)
James Evans (1)
- 刊名：Journal of Neurology
- 出版年：2014
- 出版时间：March 2014
- 年：2014
- 卷：261
- 期：3
- 页码：622-624
- 全文大小：418 KB
- 参考文献：1. Evans JP (1865) NCGENES: North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing. In: PI James Evans 2011鈥?015, NHGRI, NIH. IRB approval #11
2. Berg JS, Adams M, Nassar N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP (2013) An informatics approach to analyzing the incidentalome. Genet Med 15(1):36鈥?4 CrossRef
3. Berg JS, Khoury MJ, Evans JP (2011) Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med 13(6):499鈥?04 CrossRef
4. Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE (1996) Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 5(3):403鈥?06 CrossRef
5. Hagenah J, Saunders-Pullman R, Hedrich K, Kabakci K, Habermann K, Wiegers K, Mohrmann K, Lohnau T, Raymond D, Vieregge P, Nygaard T, Ozelius LJ, Bressman SB, Klein C (2005) High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 64(5):908鈥?11 CrossRef
6. Mayahi L, Mason L, Bleasdale-Barr K, Donald A, Trender-Gerhard I, Sweeney MG, Davis MB, Wood N, Mathias CJ, Watson L, Pellerin D, Heales S, Deanfield JE, Bhatia K, Murray-Rust J, Hingorani AD (2010) Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency. Circ Cardiovasc Genet 3(6):513鈥?22 CrossRef
7. Furukawa Y, Shimadzu M, Rajput AH, Shimizu Y, Tagawa T, Mori H, Yokochi M, Narabayashi H, Hornykiewicz O, Mizuno Y, Kish SJ (1996) GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia. Ann Neurol 39(5):609鈥?17 CrossRef
8. Grimes DA, Barclay CL, Duff J, Furukawa Y, Lang AE (2002) Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture? J Neurol Neurosurg Psychiatry 72(6):801鈥?04 CrossRef
9. Tassin J, Durr A, Bonnet AM, Gil R, Vidailhet M, Lucking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholome B, Agid Y, Brice A (2000) Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain 123(Pt 6):1112鈥?121 CrossRef
10. Nygaard TG, Wilhelmsen KC, Risch NJ, Brown DL, Trugman JM, Gilliam TC, Fahn S, Weeks DE (1993) Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet 5(4):386鈥?91 CrossRef
11. Steinberger D, Korinthenberg R, Topka H, Berghauser M, Wedde R, Muller U (2000) Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of l -dopa. German Dystonia Study Group. Neurology 55(11):1735鈥?737
12. Furukawa Y. GTP cyclohydrolase 1-Deficient dopa-responsive dystonia. GeneReviews鈩?2002 Feb 21 Updated 2012 May 3; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1508/
13. Bettencourt C, Morris HR, Singleton AB, Hardy J, Houlden H (2013) Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l -DOPA treatment. J Neurol 260(9):2414鈥?416 CrossRef
- 作者单位：Zheng Fan (1)
Robert Greenwood (1)
Ana C. G. Felix (1)
Yael Shiloh-Malawsky (1)
Michael Tennison (1)
Myra Roche (1)
Kristy Crooks (1)
Karen Weck (1)
Kirk Wilhelmsen (1)
Jonathan Berg (1)
James Evans (1)
1. University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
- ISSN：1432-1459
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