Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4

American Journal of Human Genetics

Volumn 96, Issue 3, 2015, Pages 474-479

  Bras, Jose ^a   Alonso, Isabel ^b,c   Barbot, Clara ^b,c   Costa, Maria Manuela ^d   Darwent, Lee ^a   Orme, Tatiana ^a   Sequeiros, Jorge ^b,c   Hardy, John ^a   Coutinho, Paula ^b,c   Guerreiro, Rita ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF PORTO   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d HOSPITAL PEDRO HISPANO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATASE; POLYNUCLEOTIDE KINASE 3' PHOSPHATASE; UNCLASSIFIED DRUG; DNA LIGASE; PHOSPHOTRANSFERASE; PNKP PROTEIN, HUMAN;

APRAXIA; ARTICLE; AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA; CEREBELLAR ATAXIA; CHILD; CLINICAL ARTICLE; DNA DAMAGE; EXOME; FEMALE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTRACTABLE EPILEPSY; MALE; MICROCEPHALY; OCULOMOTOR APRAXIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; APRAXIAS; COGAN SYNDROME; DNA REPAIR; GENETICS; HOMOZYGOTE; INFANT; METABOLISM; MUTATION; PEDIGREE; SPINOCEREBELLAR ATAXIAS; SPINOCEREBELLAR DEGENERATION;

APRAXIAS; CHILD; CHILD, PRESCHOOL; COGAN SYNDROME; DNA DAMAGE; DNA REPAIR; DNA REPAIR ENZYMES; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MALE; MICROCEPHALY; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SPINOCEREBELLAR ATAXIAS; SPINOCEREBELLAR DEGENERATIONS;

EID: 84924246336     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.01.005     Document Type: Article

References (25)

1. C. Barbot, P. Coutinho, R. Chorão, C. Ferreira, J. Barros, I. Fineza, K. Dias, J. Monteiro, A. Guimarães, and P. Mendonça Recessive ataxia with ocular apraxia: review of 22 Portuguese patients Arch. Neurol. 58 2001 201 205
2. M.C. Moreira, C. Barbot, N. Tachi, N. Kozuka, P. Mendonça, J. Barros, P. Coutinho, J. Sequeiros, and M. Koenig Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity Am. J. Hum. Genet. 68 2001 501 508
3. M.C. Moreira, C. Barbot, N. Tachi, N. Kozuka, E. Uchida, T. Gibson, P. Mendonça, M. Costa, J. Barros, and T. Yanagisawa The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin Nat. Genet. 29 2001 189 193
4. I. Le Ber, N. Bouslam, S. Rivaud-Péchoux, J. Guimarães, A. Benomar, C. Chamayou, C. Goizet, M.C. Moreira, S. Klur, and M. Yahyaoui Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients Brain 127 2004 759 767
5. M.C. Moreira, S. Klur, M. Watanabe, A.H. Németh, I. Le Ber, J.C. Moniz, C. Tranchant, P. Aubourg, M. Tazir, and L. Schöls Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 Nat. Genet. 36 2004 225 227
6. N. Al Tassan, D. Khalil, J. Shinwari, L. Al Sharif, P. Bavi, Z. Abduljaleel, N. Abu Dhaim, A. Magrashi, S. Bobis, and H. Ahmed A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia Hum. Mutat. 33 2012 351 354
7. R. Guerreiro, J. Brás, J. Hardy, and A. Singleton Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations Hum. Mol. Genet. 23 R1 2014 R47 R53
8. P. Coutinho, L. Ruano, J.L. Loureiro, V.T. Cruz, J. Barros, A. Tuna, C. Barbot, J. Guimarães, I. Alonso, and I. Silveira Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study JAMA Neurol. 70 2013 746 755
9. S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M.A. Ferreira, D. Bender, J. Maller, P. Sklar, P.I. de Bakker, M.J. Daly, and P.C. Sham PLINK: a tool set for whole-genome association and population-based linkage analyses Am. J. Hum. Genet. 81 2007 559 575
10. H. Li, and R. Durbin Fast and accurate short read alignment with Burrows-Wheeler transform Bioinformatics 25 2009 1754 1760
11. A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, and M.A. DePristo The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res. 20 2010 1297 1303
12. M.A. DePristo, E. Banks, R. Poplin, K.V. Garimella, J.R. Maguire, C. Hartl, A.A. Philippakis, G. del Angel, M.A. Rivas, and M. Hanna A framework for variation discovery and genotyping using next-generation DNA sequencing data Nat. Genet. 43 2011 491 498
13. J. Shen, E.C. Gilmore, C.A. Marshall, M. Haddadin, J.J. Reynolds, W. Eyaid, A. Bodell, B. Barry, D. Gleason, and K. Allen Mutations in PNKP cause microcephaly, seizures and defects in DNA repair Nat. Genet. 42 2010 245 249
14. C. Poulton, R. Oegema, D. Heijsman, J. Hoogeboom, R. Schot, H. Stroink, M.A. Willemsen, F.W. Verheijen, P. van de Spek, A. Kremer, and G.M. Mancini Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations Neurogenetics 14 2013 43 51
15. G.L. Carvill, S.B. Heavin, S.C. Yendle, J.M. McMahon, B.J. O'Roak, J. Cook, A. Khan, M.O. Dorschner, M. Weaver, and S. Calvert Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 Nat. Genet. 45 2013 825 830
16. I. Le Ber, M.C. Moreira, S. Rivaud-Péchoux, C. Chamayou, F. Ochsner, T. Kuntzer, M. Tardieu, G. Saïd, M.O. Habert, and G. Demarquay Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies Brain 126 2003 2761 2772
17. M. Anheim, B. Monga, M. Fleury, P. Charles, C. Barbot, M. Salih, J.P. Delaunoy, M. Fritsch, L. Arning, and M. Synofzik Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients Brain 132 2009 2688 2698
18. N.K. Bernstein, R.S. Williams, M.L. Rakovszky, D. Cui, R. Green, F. Karimi-Busheri, R.S. Mani, S. Galicia, C.A. Koch, and C.E. Cass The molecular architecture of the mammalian DNA repair enzyme, polynucleotide kinase Mol. Cell 17 2005 657 670
19. X. Liu, X. Jian, and E. Boerwinkle dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations Hum. Mutat. 34 2013 E2393 E2402
20. J.J. Reynolds, A.K. Walker, E.C. Gilmore, C.A. Walsh, and K.W. Caldecott Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair Nucleic Acids Res. 40 2012 6608 6619
21. M. Weinfeld, R.S. Mani, I. Abdou, R.D. Aceytuno, and J.N. Glover Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair Trends Biochem. Sci. 36 2011 262 271
22. K.W. Caldecott Single-strand break repair and genetic disease Nat. Rev. Genet. 9 2008 619 631
23. H. Segal-Raz, G. Mass, K. Baranes-Bachar, Y. Lerenthal, S.Y. Wang, Y.M. Chung, S. Ziv-Lehrman, C.E. Ström, T. Helleday, and M.C. Hu ATM-mediated phosphorylation of polynucleotide kinase/phosphatase is required for effective DNA double-strand break repair EMBO Rep. 12 2011 713 719
24. F.A. Derheimer, and M.B. Kastan Multiple roles of ATM in monitoring and maintaining DNA integrity FEBS Lett. 584 2010 3675 3681
25. J.R. Whiteside, C.L. Box, T.J. McMillan, and S.L. Allinson Cadmium and copper inhibit both DNA repair activities of polynucleotide kinase DNA Repair (Amst.) 9 2010 83 89