과제정보
This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korean government (NRF-2018R1A5A2024418).
참고문헌
- Majewski F, Goecke T : Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am J Med Genet, 12:7-21, 1982. https://doi.org/10.1002/ajmg.1320120103
- Majewski F, Ranke M, Schinzel A : Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet, 12:23-35, 1982. https://doi.org/10.1002/ajmg.1320120104
- Majewski F, Stoeckenius M, Kemperdick H : Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and claviclesosteodysplastic primordial dwarfism type III. Am J Med Genet, 12:37-42, 1982. https://doi.org/10.1002/ajmg.1320120105
- Sigaudy S, Toutain A, Philip N, et al. : Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: Report of four cases and review of the literature. Am J Med Genet, 80:16-24, 1998. https://doi.org/10.1002/(SICI)1096-8628(19981102)80:1<16::AID-AJMG4>3.0.CO;2-5
- Leutenegger AL, Labalme A, Edery P, et al. : Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. Am J Hum Genet, 79:62-66, 2006. https://doi.org/10.1086/504640
- He H, Liyanarachchi S, Chapelle A, et al. : Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science, 332:238-240, 2011. https://doi.org/10.1126/science.1200587
- Haan E, Furness M, Vigneswaren R, et al. : Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am J Med Genet, 33:224-227, 1989. https://doi.org/10.1002/ajmg.1320330216
- Meinecke P, Schaefer E, Wiedemann HR : Microcephalic osteodysplastic primordial dwarfism: Further evidence for identity of the so-called types I and III. Am J Med Genet, 39:232-236, 1991. https://doi.org/10.1002/ajmg.1320390228
- Rauch A, Thiel CT, Reis A, et al. : Mutations in the pericentrin (PCNT ) gene cause primordial dwarfism. Science, 319:816-819, 2008. https://doi.org/10.1126/science.1151174
- Rauch A : The shortest of the short: pericentrin mutations and beyond. Best Pract Res Clin Endocrinol Metab, 25:125-130, 2011. https://doi.org/10.1016/j.beem.2010.10.015
- Terlemez A, Altunsoy M, Celebi H : Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient. J Istanb Univ Fac Dent, 49: 41-46, 2015. https://doi.org/10.17096/jiufd.73283
- Hall JG, Flora C, Tanaka KI, et al. : Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A, 130:55-72, 2004.
- Karatas AF, Bober MB, Mackenzie WG, et al. : Hip pathology in Majewski osteodysplastic primordial dwarfism type II. J Pediatr Orthop, 34:585-590, 2014. https://doi.org/10.1097/BPO.0000000000000183
- Brancati F, Castori M, Mingarelli R, Dallapiccola B : Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am J Med Genet A, 139:212-215, 2005.
- Bober MB, Jackson AP : Microcephalic osteodysplastic primordial dwarfism, type II: a clinical review. Curr Osteoporos Rep, 15:61-69, 2017. https://doi.org/10.1007/s11914-017-0348-1
- Flory MR, Moser MJ, Monnat RJ, Davis TN : Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin. Proc Natl Acad Sci U S A, 97:5919-5923, 2000. https://doi.org/10.1073/pnas.97.11.5919
- Delaval B, Doxsey SJ : Pericentrin in cellular function and disease.J Cell Biol, 188:181-190, 2010. https://doi.org/10.1083/jcb.200908114
- Dictenberg JB, Zimmerman W, Doxsey SJ, et al. : Pericentrin and γ-tubulin form a protein complex and are organized into a novel lattice at the centrosome. J Cell Biol, 141:163-174, 1998. https://doi.org/10.1083/jcb.141.1.163
- Ghosh S, Garg M, Chandra M, et al. : Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene. Oral Surg Oral Med Oral Pathol Oral Radiol, 129:204-211, 2020.
- Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V : Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. Am J Med Genet A, 130:181-190, 2004.
- Kantaputra PN : Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings. Am J Med Genet, 111:420-428, 2002. https://doi.org/10.1002/ajmg.10589
- Kantaputra P, Tanpaiboon P, Thiel CT, et al . : The smallest teeth in the world are caused by mutations in the PCNT gene. Am J Med Genet A, 155:1398-1403, 2011. https://doi.org/10.1002/ajmg.a.33984
- Abdelsalam GMH, Sayed ISM, Abdelhamid MS, et al. : Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation. Am J Med Genet A, 182:1407-1420, 2020. https://doi.org/10.1002/ajmg.a.61585
- Korean academy of pediatric dentistry : Text book of pediatric dentistry, 5th ed. Dental wisdom, Seoul, 93-94, 2014.
- Waich S, Janecke AR, Vodopiutz J, et al. : Novel PCNT variants in MOPD II with attenuated growth restriction and pachygyria. Clin Genet, 98:282-287, 2020. https://doi.org/10.1111/cge.13797
- Tezerjani MD, Mehrjardi MYV, Hozhabri H, Rahmanian M : A Novel PCNT frame shift variant (c.7511delA) causing osteodysplastic primordial dwarfism of majewski Type 2 (MOPD II). Front Pediatr, 8:340, 2020. https://doi.org/10.3389/fped.2020.00340
- Weiss K, Ekhilevitch N, Muenke M et al. : Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population. Eur J Med Genet, 63:103643, 2020. https://doi.org/10.1016/j.ejmg.2019.03.007
- Alrajhi H, Alallah J, Hakami F, et al. : Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene. BMJ Case Rep, 12:224197, 2019.
- Pachajoa H, Botero FR, Isaza C : A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. J Med Case Rep, 8:1-5, 2014. https://doi.org/10.1186/1752-1947-8-1
- Dieks JK, Baumer A, Sigler M, et al. : Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. Eur J Pediatr, 173:1253-1256, 2014. https://doi.org/10.1007/s00431-014-2368-5
- Unal S, Alanay Y, Gumruk F, et al. : Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. Pediatr Blood Cancer, 61: 302-305, 2014. https://doi.org/10.1002/pbc.24783
- Piane M, Monica MD, Scarano G, et al. : Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. Am J Med Genet A, 149:2452-2456, 2009.
- Oliveira MAH, Torres CP, Borsatto MC, et al. : Microstructure and mineral composition of dental enamel of permanent and deciduous teeth. Microsc Res Tech, 73:572-577, 2010. https://doi.org/10.1002/jemt.20796
- Linden L, Bjorkman S, Hattab F : The diffusion in vitro of fluoride and chlorhexidine in the enamel of human deciduous and permanent teeth. Arch Oral Biol, 31:33-37, 1986. https://doi.org/10.1016/0003-9969(86)90110-X
- Ronald S, Jack F, John P : Craig's Restorative Dental Material, 14th ed. Mosby, 277-278, 2018.
- Poorni S, Kumar RA, Ramachandran S, et al. : Effect of 10% sodium ascorbate on the calcium: Phosphorus ratio of enamel bleached with 35% hydrogen peroxide: an in vitro quantitative energy-dispersive X-ray analysis. Contemp Clin Dent, 1:223-226, 2010. https://doi.org/10.4103/0976-237X.76388
- Kodaka T, Debari K, Yamada M, Kuroiwa M : Correlation between microhardness and mineral content in sound human enamel (short communication). Caries Res, 26:139-141, 1992. https://doi.org/10.1159/000261498
- Kodaka T, Debari K, Yamada M : Correlation between microhardness and mineral content in sound human dentin. Showa Shigakkai Zasshi, 18:199-201, 1998.