ACHONDROGENESIS TYPE 2 IN A NEWBORN WITH A NOVEL MUTATION ON THE COL2A1 GENE
Dogan P1,*, Varal IG1, Gorukmez O2, Akkurt MO3, Akdag A1
*Corresponding Author: Pelin Dogan, M.D., University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital, Department of Pediatrics, Division of Neonatology, Yıldırım, Bursa, Turkey. Tel.: +90-505-316-4268. Fax: +90-224-294-4000. E-mail: pelin_akbas@yahoo.com
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REFERENCES

1. Spranger J, Beighton P, Giedion A, Gorlin R, Hall J, Horton B, et al. International Working Group on Constitutional Diseases of Bone. Eur J Pediatr. 1992; 151(6): 407-415. 2. Lee HS, Doh JW, Kim CJ, Chi JG. Achondrogenesis type II (Langer-Saldino achondrogenesis): A case report. J Korean Med Sci. 2000; 15(5): 604-608. 3. Swar MO, Srikrishna BV. Achondrogenesis type II (Langer-Saldino) – A case report. Afr J Med Sci. 1995; 24(3): 297-299. 4. Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, et al. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father. Am J Med Genet A. 2007; 143A(23): 2815-2820. 5. Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative genomics viewer. Nat Biotechnol. 2011; 29(1): 24-26. 6. Gormez Z, Bakir-Gungor B, Sagiroglu MS. HomSI: A homozygous stretch identifier from next-generation sequencing data. Bioinformatics. 2014; 30(3): 445-447. 7. Zhou X, Chandler N, Deng L, Zhou J, Yuan M, Sun L. Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel. Prenat Diagn. 2018; 38(9): 692-699. 8. Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, et al. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. Am J Med Genet C Semin Med Genet. 2012; 160C(3): 205-216. 9. Rauch F, Lalic L, Roughley P, Glorieux FH. Genotype- phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet. 2010; 18(6): 642-647. 10. Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, et al. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 2015; 167A(3): 461-475. 11. Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, et al. Mutation update for COL2A1 gene variants associated with type II collagenopathies. Hum Mutat. 2016; 37(1): 7-15. 12. Kannu P, Irving M, Aftimos S, Savarirayan R. Two novel COL2A1 mutations associated with a Legg- Calvé-Perthes disease-like presentation. Clin Orthop Relat Res. 2011; 469(6): 1785-1790. 13. Vanegas S, Sua LF, López-Tenorio J, Ramírez-Montaño D, Pachajoa H. Achondrogenesis type IA: Clinical, histologic, molecular, and prenatal ultrasound diagnosis. Appl Clin Genet. 2018; 11: 69-73. 14. Eyre DR, Upton MP, Shapiro FD, Wilkinson RH, Vawter GF. Nonexpression of cartilage type II collagen in a case of Lander-Saldino achondrogenesis. Am J Hum Genet. 1986; 39(1): 52-67.



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