{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T04:56:09Z","timestamp":1791262569697,"version":"4.1.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2014,6,26]],"date-time":"2014-06-26T00:00:00Z","timestamp":1403740800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2014,8]]},"DOI":"10.1038\/jhg.2014.51","type":"journal-article","created":{"date-parts":[[2014,6,26]],"date-time":"2014-06-26T06:18:11Z","timestamp":1403763491000},"page":"471-474","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss"],"prefix":"10.1038","volume":"59","author":[{"given":"Mitsuko","family":"Nakashima","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoko","family":"Takano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Osaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Aida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,6,26]]},"reference":[{"key":"BFjhg201451_CR1","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1038\/nrn2559","volume":"10","author":"PJ McKinnon","year":"2009","unstructured":"McKinnon, P. J. DNA repair deficiency and neurological disease. Nat. Rev. Neurosci. 10, 100\u2013112 (2009).","journal-title":"Nat. Rev. Neurosci."},{"key":"BFjhg201451_CR2","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/ng.526","volume":"42","author":"J Shen","year":"2010","unstructured":"Shen, J., Gilmore, E. C., Marshall, C. A., Haddadin, M., Reynolds, J. J., Eyaid, W. et al. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat. Genet. 42, 245\u2013249 (2010).","journal-title":"Nat. Genet."},{"key":"BFjhg201451_CR3","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1007\/s10048-012-0351-8","volume":"14","author":"C Poulton","year":"2013","unstructured":"Poulton, C., Oegema, R., Heijsman, D., Hoogeboom, J., Schot, R., Stroink, H. et al. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics 14, 43\u201351 (2013).","journal-title":"Neurogenetics"},{"key":"BFjhg201451_CR4","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1038\/ng.2562","volume":"45","author":"H Saitsu","year":"2013","unstructured":"Saitsu, H., Nishimura, T., Muramatsu, K., Kodera, H., Kumada, S., Sugai, K. et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat. Genet. 45, 445\u2013449, 449e1 (2013).","journal-title":"Nat. Genet."},{"key":"BFjhg201451_CR5","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248\u2013249 (2010).","journal-title":"Nat. Methods"},{"key":"BFjhg201451_CR6","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz, J. M., Rodelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods. 7, 575\u2013576 (2010).","journal-title":"Nat. Methods."},{"key":"BFjhg201451_CR7","doi-asserted-by":"publisher","first-page":"4151","DOI":"10.1093\/hmg\/dds123","volume":"21","author":"S Timal","year":"2012","unstructured":"Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J. et al. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum. Mol. Genet. 21, 4151\u20134161 (2012).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201451_CR8","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1038\/nature12439","volume":"501","author":"AS Allen","year":"2013","unstructured":"Allen, A. S., Berkovic, S. F., Cossette, P., Delanty, N., Dlugos, D., Eichler, E. E. et al. De novo mutations in epileptic encephalopathies. Nature 501, 217\u2013221 (2013).","journal-title":"Nature"},{"key":"BFjhg201451_CR9","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1038\/ng.2646","volume":"45","author":"GL Carvill","year":"2013","unstructured":"Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J. et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat. Genet. 45, 825\u2013830 (2013).","journal-title":"Nat. Genet."},{"key":"BFjhg201451_CR10","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1016\/j.tibs.2011.01.006","volume":"36","author":"M Weinfeld","year":"2011","unstructured":"Weinfeld, M., Mani, R. S., Abdou, I., Aceytuno, R. D. & Glover, J. N. Tidying up loose ends: the role of polynucleotide kinase\/phosphatase in DNA strand break repair. Trends Biochem. Sci. 36, 262\u2013271 (2011).","journal-title":"Trends Biochem. Sci."},{"key":"BFjhg201451_CR11","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1038\/nrg2380","volume":"9","author":"KW Caldecott","year":"2008","unstructured":"Caldecott, K. W. Single-strand break repair and genetic disease. Nat. Rev. Genet. 9, 619\u2013631 (2008).","journal-title":"Nat. Rev. Genet."},{"key":"BFjhg201451_CR12","doi-asserted-by":"publisher","first-page":"3874","DOI":"10.1038\/sj.emboj.7600375","volume":"23","author":"CA Koch","year":"2004","unstructured":"Koch, C. A., Agyei, R., Galicia, S., Metalnikov, P., O'Donnell, P., Starostine, A. et al. Xrcc4 physically links DNA end processing by polynucleotide kinase to DNA ligation by DNA ligase IV. EMBO J. 23, 3874\u20133885 (2004).","journal-title":"EMBO J."},{"key":"BFjhg201451_CR13","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/S0092-8674(04)00206-5","volume":"117","author":"JI Loizou","year":"2004","unstructured":"Loizou, J. I., El-Khamisy, S. F., Zlatanou, A., Moore, D. J., Chan, D. W., Qin, J. et al. The protein kinase CK2 facilitates repair of chromosomal DNA single-strand breaks. Cell 117, 17\u201328 (2004).","journal-title":"Cell"},{"key":"BFjhg201451_CR14","doi-asserted-by":"publisher","first-page":"24176","DOI":"10.1074\/jbc.274.34.24176","volume":"274","author":"A Jilani","year":"1999","unstructured":"Jilani, A., Ramotar, D., Slack, C., Ong, C., Yang, X. M., Scherer, S. W. et al. Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage. J. Biol. Chem. 274, 24176\u201324186 (1999).","journal-title":"J. Biol. Chem."},{"key":"BFjhg201451_CR15","doi-asserted-by":"publisher","first-page":"6608","DOI":"10.1093\/nar\/gks318","volume":"40","author":"JJ Reynolds","year":"2012","unstructured":"Reynolds, J. J., Walker, A. K., Gilmore, E. C., Walsh, C. A. & Caldecott, K. W. Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. Nucleic Acids Res. 40, 6608\u20136619 (2012).","journal-title":"Nucleic Acids Res."},{"key":"BFjhg201451_CR16","doi-asserted-by":"publisher","first-page":"1709","DOI":"10.1093\/hmg\/10.16.1709","volume":"10","author":"KN Alagramam","year":"2001","unstructured":"Alagramam, K. N., Yuan, H., Kuehn, M. H., Murcia, C. L., Wayne, S., Srisailpathy, C. R. et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum. Mol. Genet. 10, 1709\u20131718 (2001).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201451_CR17","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1086\/321277","volume":"69","author":"ZM Ahmed","year":"2001","unstructured":"Ahmed, Z. M., Riazuddin, S., Bernstein, S. L., Ahmed, Z., Khan, S., Griffith, A. J. et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am. J. Hum. Genet. 69, 25\u201334 (2001).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201451_CR18","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1038\/jhg.2010.29","volume":"55","author":"D Yan","year":"2010","unstructured":"Yan, D. & Liu, X. Z. Genetics and pathological mechanisms of Usher syndrome. J. Hum. Genet. 55, 327\u2013335 (2010).","journal-title":"J. Hum. Genet."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg201451.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201451","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201451.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:32:56Z","timestamp":1684431176000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201451"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,26]]},"references-count":18,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["BFjhg201451"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2014.51","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,26]]},"assertion":[{"value":"7 April 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 May 2014","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 June 2014","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 June 2014","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}