
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
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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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