Novel DCX pathogenic variant in a girl with subcortical band heterotopia

1. Barkovich AJ, Jackson DJ, Boyer RS. Band heterotopias: a newly recognized neuronal migration anomaly. Radiology. 1989 May;171(2):455-8. DOI: 10.1148/radiology.171.2.2468173 Open DOISearch in Google Scholar

2. Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, et al. X-linked malformations of neuronal migration. Neurology. 1996 Aug;47(2):331-9. DOI: 10.1212/WNL.47.2.331 Open DOISearch in Google Scholar

3. Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, et al. New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 2013 Jan;136(Pt 1):223-44. DOI: 10.1093/brain/aws323 Open DOISearch in Google Scholar

4. Pilz DT, Matsumoto N, Minnerath S, Mills P, Glee-son JG, Allen KM, et al. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec;7(13):2029-37. DOI: 10.1093/hmg/7.13.2029 Open DOISearch in Google Scholar

5. Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, et al. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol. 2000 Feb;47(2):265-9. DOI: 10.1002/1531-8249(200002)47:2<265::AIDANA22>3.0.CO;2-N Open DOISearch in Google Scholar

6. Reiner O. LIS1 and DCX: Implications for Brain Development and Human Disease in Relation to Microtubules. Scientifica. 2013 Mar;2013:1-17. DOI: 10.1155/2013/393975 Open DOISearch in Google Scholar

7. Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, et al. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet. 2001 Jan;9(1):5-12. DOI: 10.1038/sj.ejhg.5200548 Open DOISearch in Google Scholar

8. Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia. 2010 Feb;51(Suppl. 1):5-9. DOI: 10.1111/j.1528-1167.2009.02433.x Open DOISearch in Google Scholar

9. Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, et al. The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet. 2011 May; 88(5):523-35. DOI: 10.1016/j. ajhg.2011.03.019 Open DOISearch in Google Scholar

10. Watrin F, Manent JB, Cardoso C, Represa A. Causes and Consequences of Gray Matter Heterotopia. CNS Neurosci Ther. 2015 Feb;21(2):112-22. DOI: 10.1111/cns.12322 Open DOISearch in Google Scholar

11. Tsai MH, Muir AM, Wang WJ, Kang YN, Chao NH, Wu MF, et al. Pathogenic variants in CEP85L cause sporadic and familial posterior predominant lissencephaly. Neuron. 2020 Apr;106(2):237-245.e8. DOI: 10.1016/j.neuron.2020.01.027 Open DOISearch in Google Scholar

12. Moslehi M, Ng DCH, Bogoyevitch MA. Dynamic microtubule association of Doublecortin X (DCX) is regulated by its C-terminus. Sci Rep. 2017 Jul;7(1):5245. DOI: 10.1038/s41598-017-05340-x Open DOISearch in Google Scholar

13. Tint I, Jean D, Baas PW, Black MM. Doublecortin associates with microtubules preferentially in regions of the axon displaying actin-rich protrusive structures. J Neurosci. 2009 Sep;29 (35):10995-1010. DOI: 10.1523/JNEUROSCI.3399-09.2009 Open DOISearch in Google Scholar

14. Moslehi M, Ng DCH, Bogoyevitch MA. Doublecortin X (DCX) serine 28 phosphorylation is a regulatory switch, modulating association of DCX with microtubules and actin filaments. Biochim Biophys Acta Mol Cell Res. 2019 Apr;1866(4):638-49. DOI: 10.1016/j. bbamcr.2019.01.003 Open DOISearch in Google Scholar

15. Burger D, Stihle M, Sharma A, Di Lello P, Benz J, D’Arcy B, et al. Crystal Structures of the Human Doublecortin C- and N-terminal Domains in Complex with Specific Antibodies. J Biol Chem. 2016 Jul;291(31):16292-306. DOI: 10.1074/jbc.M116.726547 Open DOISearch in Google Scholar

16. Kim MH, Cierpicki T, Derewenda U, Krowarsch D, Feng Y, Devedjiev Y, et al. The DCX-domain tandems of doublecortin and doublecortin-like kinase. Nat Struct Biol. 2003 May;10(5):324-33. DOI: 10.1038/nsb918 Open DOISearch in Google Scholar

17. Manka SW, Moores CA. Pseudo-repeats in doublecortin make distinct mechanistic contributions to microtubule regulation. EMBO Rep. 2020 Dec;21(12):e51534. DOI: 10.15252/embr.202051534 Open DOISearch in Google Scholar

18. Tanaka T, Serneo FF, Tseng HC, Kulkarni AB, Tsai LH, Gleeson JG. Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration. Neuron. 2004 Jan;41(2):215-27. DOI: 10.1016/S0896-6273(03)00852-3 Open DOISearch in Google Scholar

19. Haverfield E, Whited A, Petras K, Dobyns W, Das S. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur J Hum Genet. 2009 Jul;17(7):911-8. DOI: 10.1038/ejhg.2008.213298649819050731 Open DOISearch in Google Scholar

20. Jamuar SS, Walsh CA. Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am. 2015 Apr;62(3):571-585. DOI: 10.1016/j.pcl.2015.03.002444945426022163 Open DOISearch in Google Scholar