Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

Journal of Neurogenetics

Volumn 27, Issue 4, 2013, Pages 176-182

  Pyle, Angela ^a   Griffin, Helen ^a   Duff, Jennifer ^a   Bennett, Shona ^b   Zwolinski, Simon ^b   Smertenko, Tania ^a   Yu Wai Man, Patrick ^a   Santibanez Koref, Mauro ^a   Horvath, Rita ^a   Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

ARSACS; Ataxia; Comparative genomic hybridization; Whole exome sequencing

Indexed keywords

ACHILLES REFLEX; ADULT; ARTICLE; ATAXIA; ATAXIC GAIT; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; BULBAR PARALYSIS; CASE REPORT; CEREBELLAR ATAXIA; CEREBRAL PALSY; CHROMOSOME 13Q; CHROMOSOME 13Q12.12 DELETION; CHROMOSOME DELETION 13; CLINICAL EVALUATION; CODON; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIAL NERVE; DYSMETRIA; EVOKED SOMATOSENSORY RESPONSE; EXOME; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; LIMB WEAKNESS; MALE; MOVEMENT PERCEPTION; MUSCLE ATROPHY; NYSTAGMUS; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; PROPRIOCEPTION; SCOLIOSIS; SLURRED SPEECH; SPINAL CORD; URINARY URGENCY;

ADULT; AGE OF ONSET; BASE SEQUENCE; COMPARATIVE GENOMIC HYBRIDIZATION; EXOME; HEAT-SHOCK PROTEINS; HUMANS; MALE; MIDDLE AGED; MUSCLE SPASTICITY; MUTATION; PEDIGREE; SPINOCEREBELLAR ATAXIAS;

EID: 84889249846     PISSN: 01677063     EISSN: 15635260     Source Type: Journal    
DOI: 10.3109/01677063.2013.831094     Document Type: Article

References (16)

1. Albers, C. A., Lunter, G., MacArthur, D. G., McVean, G., Ouwehand, W. H., & Durbin, R. (2011). Dindel: Accurate indel calls from short-read data. Genome Res, 21, 961-973.
2. Anheim, M., Tranchant, C., & Koenig, M. (2012). The autosomal recessive cerebellar ataxias. N Engl J Med, 366, 636-646.
3. Breckpot, J., Takiyama, Y., Thienpont, B., Van Vooren, S., Vermeesch, J. R., Ortibus, E., & Devriendt, K. (2008). A novel genomic disorder: A deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. Eur J Hum Genet, 16, 1050-1054.
4. Engert, J. C., Berube, P., Mercier, J., Dore, C., Lepage, P., Ge, B., Bouchard, J. P., Mathieu, J., Melancon, S. B., Schalling, M., Lander, E. S., Morgan, K., Hudson, T. J., & Richter, A. (2000). ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet, 24, 120-125.
5. Gregianin, E., Vazza, G., Scaramel, E., Boaretto, F., Vettori, A., Leonardi, E., Tosatto, S. C., Manara, R., Pegoraro, E., & Mostacciuolo, M. L. (2013). A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. Eur J Neurol, 20, 1486-1491.
6. Hadjivassiliou, M., Boscolo, S., Tongiorgi, E., Grunewald, R. A., Sharrack, B., Sanders, D. S., Woodroofe, N., & Davies-Jones, G. A. (2008). Cerebellar ataxia as a possible organ-specifi c autoimmune disease. Mov Disord, 23, 1370-1377.
7. Koboldt, D. C., Chen, K., Wylie, T., Larson, D. E., McLellan, M. D., Mardis, E. R., Weinstock, G. M., Wilson, R. K., & Ding, L. (2009). VarScan: Variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics, 25, 2283-2285.
8. Kozlov, G., Denisov, A. Y., Girard, M., Dicaire, M. J., Hamlin, J., McPherson, P. S., Brais, B., & Gehring, K. (2011). Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). J Biol Chem, 286, 20407-20412.
9. Li, H., & Durbin, R. (2009). Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics, 25, 1754-1760.
10. Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., & Durbin, R. (2009). The Sequence Alignment/Map format and SAMtools. Bioinformatics, 25, 2078-2079.
11. Plagnol, V., Curtis, J., Epstein, M., Mok, K. Y., Stebbings, E., Grigoriadou, S., Wood, N. W., Hambleton, S., Burns, S. O., Thrasher, A. J., Kumararatne, D., Doffi nger, R., & Nejentsev, S. (2012). A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics, 28, 2747-2754.
12. Schwarz, J. M., Rodelsperger, C., Schuelke, M., & Seelow, D. (2010). MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods, 7, 575-576.
13. Synofzik, M., Soehn, A. S., Gburek-Augustat, J., Schicks, J., Karle, K. N., Schule, R., Haack, T. B., Schoning, M., Biskup, S., Rudnik-Schoneborn, S., Senderek, J., Hoffmann, K. T., MacLeod, P., Schwarz, J., Bender, B., Kruger, S., Kreuz, F., Bauer, P., & Schols, L. (2013). Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): Expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis, 8, 41.
14. Takiyama, Y. (2007). Sacsinopathies: Sacsin-related ataxia. Cerebellum, 6, 353-359.
15. Terracciano, A., Casali, C., Grieco, G. S., Orteschi, D., Di Giandomenico, S., Seminara, L., Di Fabio, R., Carrozzo, R., Simonati, A., Stevanin, G., Zollino, M., & Santorelli, F.M. (2009). An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss. Neurogenetics, 10, 151-155.
16. Tzoulis, C., Johansson, S., Haukanes, B. I., Boman, H., Knappskog, P. M., & Bindoff, L. A. (2013). Novel SACS mutations identifi ed by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLoS ONE, 8, e66145.