Acknowledgement
This study was supported by the Research Program funded by the Korea Centers for Disease Control and Prevention (Grant No. 2018-ER6901-02).
References
- Guemez-Gamboa A, Coufal NG, Gleeson JG. Primary cilia in the developing and mature brain. Neuron 2014;82:511-21. https://doi.org/10.1016/j.neuron.2014.04.024
- Nozawa YI, Lin C, Chuang PT. Hedgehog signaling from the primary cilium to the nucleus: an emerging picture of ciliary localization, trafficking and transduction. Curr Opin Genet Dev 2013;23:429-37. https://doi.org/10.1016/j.gde.2013.04.008
- Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med 2011;364:1533-43. https://doi.org/10.1056/NEJMra1010172
- Gurrieri F, Franco B, Toriello H, Neri G. Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet A 2007;143A:3314-23. https://doi.org/10.1002/ajmg.a.32032
- Adly N, Alhashem A, Ammari A, Alkuraya FS. Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. Hum Mutat 2014;35:36-40. https://doi.org/10.1002/humu.22477
- Hietamaki J, Gregory LC, Ayoub S, Iivonen AP, Vaaralahti K, Liu X, et al. Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism. J Clin Endocrinol Metab 2020;105:1748-58. https://doi.org/10.1210/clinem/dgaa078
- Alsahan N, Alkuraya FS. Confirming TBC1D32-related ciliopathy in humans. Am J Med Genet A 2020;182:1985-7. https://doi.org/10.1002/ajmg.a.61717
- Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, et al. Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population. Am J Hum Genet 2019;104:1182-201. https://doi.org/10.1016/j.ajhg.2019.04.011
- Kim SY, Jang SS, Kim H, Hwang H, Choi JE, Chae JH, et al. Genetic diagnosis of infantile-onset epilepsy in the clinic: application of whole-exome sequencing following epilepsy gene panel testing. Clin Genet 2021;99:418-24. https://doi.org/10.1111/cge.13903
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24. https://doi.org/10.1038/gim.2015.30
- Ko HW, Norman RX, Tran J, Fuller KP, Fukuda M, Eggenschwiler JT. Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction. Dev Cell 2010;18:237-47. https://doi.org/10.1016/j.devcel.2009.12.014
- Balestrini S, Milh M, Castiglioni C, Luthy K, Finelli MJ, Verstreken P, et al. TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features. Neurology 2016;87:77-85. https://doi.org/10.1212/WNL.0000000000002807
- Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis 2010;5:20. https://doi.org/10.1186/1750-1172-5-20
- Suspitsin EN, Imyanitov EN. Bardet-Biedl syndrome. Mol Syndromol 2016;7:62-71. https://doi.org/10.1159/000445491