SLC26A2 RELATED DIASTROPHIC DYSPLASIA IN 42-YEARS UKRAINIAN WOMEN
Bondarenko M.1, Haiboniuk I.2,3, Solovei I.4, Shargorodska Y.2, Makukh H.2, 3*
*Corresponding Author: *Corresponding Author: Makukh Halyna, Ph.D., 31-A Lysenko Institute of Hereditary Pathology of the Ukrainian National Academy of Medical Sciences, Lviv, Ukraine, & Scientific Medical Genetic Center LeoGENE, Maksymovych, 7g str, Lviv, Ukraine, 79059. Tel +380677191380, E-mail: mgdc@leogene.com.ua
page: 83

REFERENCES

1. Dwyer E, Hyland J, Modaff P, Pauli RM. Genotypephenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A. 2010; 152 a (12):3043-50. 2. Szczepaniak-Kubat A, Tesiorowski M, Merc- Gołebiowska Z, Jakubowska-Pietkiewicz E. Diastrophic dysplasia in a seven-year-old girl. Case study. Ortop Traumatol Rehabil. 2010 May- Jun;12(3):257-63 3. Pineda T, Rossi A, Bonafè L, Superti-Furga A, Velasco Harv M. Report of a novel mutation in the SLC26A2 gene found in a Colombian adult patient with diastrophic dysplasia. Revista de la Facultad de Medicina. 2013; 61(3): 255-259. 4. Diastrophic Dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., University of Washington, Seattle; 2013: 1993-2021. 5. Farooq Ahamdb, Muhammad Bilalb, Abdulaziz Asiria, Muhammad Younusc, Amjad Khand. A Comprehensive review of genetic skeletal disorders reported from Pakistan: A brief commentary. Meta Gene. 2019; 2: 100559. 6. Honório J ; Bruns R, Gründtner L, Raskin S, Ferrari L, Júnior E, Nardozza L, Diastrophic dysplasia: Prenatal diagnosis and review of the literature. Sao Paulo Med. J. 2013, 131, 127–132. 7. Zheng C. Lin X. Xu X. Wang C. Zhou J. Gao B. et al. Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias. EBioMedicine 2019; 40: 695–709. 8. Hästbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I et al. Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet. 1999; 7: 664-670. 9. Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001; 17:159–71. 10. Mehran Kausar, Riikka E Mäkitie, Sanna Toiviainen- Salo, Jaakko Ignatius, Mariam Anees, Outi Mäkitie Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. Eur J Med Genet. 2019; 62(11): 103573. 11. Bieganski T, Faflik J, Kozlowski K. Diastrophic dysplasia with severe primary kyphosis and ‘monkey wrench’ appearance of the femora. Australas Radiol. 2000; 44: 450-53. 12. Czarny-Ratajczak M, Bieganski T, Rogala P, Glowacki M, Trzeciak T, Kozlowski K. New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. Am J Med Genet Part A. 2010; 152(A): 3036–3042. 13. Krista A. Geister1, Sally A. Advances in Skeletal Dysplasia Genetics. Annual Review of Genomics and Human Genetics, 2015; 16: 199-227. 14. Härkönen, H.; Loid, P.; Mäkitie, O. SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature. Genes. 2021; 12: 714. 15. Paganini C. Tota C.G. Monti L. Monti I. Maurizi A. Capulli M. et al. Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine. Biochem. Pharmacol. 2021; 185: 114452. 16. Saari A. Sankilampi U. Hannila M.-L. Kiviniemi V. Kesseli K. Dunkel L. New Finnish growth references for children and adolescents aged 0 to 20 years: Length/ height-for-age, weight-for-length/height, and body mass index-for-age. Ann. Med. 2010; 43: 235–248. 17. Kausar M. Mäkitie R.E. Toiviainen-Salo S. Ignatius J. Anees M. Mäkitie O. Recessive multiple epiphyseal dysplasia—Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. Eur. J. Med. Genet. 2019; 62: 103573. 18. Syvänen J. Helenius I. Hero M. Mäkitie O. Ignatius J. Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene. Am. J. Med. Genet. Part A. 2013; 161: 1491–1494. 19. Superti-Furga A, Unger S, and the Nosology Group of the International Skeletal Dysplasia Society. Nosology and classification of genetic skeletal disorders: Am J Med Genet. Part A. 2007; 143A: 1–18. 20. Buyse ML. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications, Inc. 1990: 533-35. 21. Superti-Furga A. Skeletal dysplasias related to defects in sulfate metabolism. In: Royce P, Steinmann B, editors. Connective Tissue and its heritable disorders, 2 Ed. New York: Wiley-Liss, Inc. 2002. 939-60.



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