DUPLICATION OF THE SOX3 GENE IN AN SRY-NEGATIVE 46,XX MALE WITH ASSOCIATED CONGENITAL ANOMALIES OF KIDNEYS AND THE URINARY TRACT: CASE REPORT AND REVIEW OF THE LITERATURE
Tasic V1, Mitrotti A2, Riepe FG3, Kulle AE3, Laban N1, Polenakovic M4, Plaseska-Karanfilska D4, Sanna-Cherchi S2, Kostovski M1, Gucev Z1,*
*Corresponding Author: Professor Dr. Zoran Gucev, University Children’s Hospital, Medical Faculty Skopje, ul. Majka Tereza 17, 1000 Skopje, Republic of Macedonia. Mobile: +389-70-279-742. E-mail: gucevz@ gmail.com
page: 81

REFERENCES

1. Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, Lauzanne K, Lee E. How sexually dimorphic are we? Review and synthesis. Am J Hum Biol. 2000; 12(2): 151-66. 2. Springer A, van den Heijkant M, Baumann S. Worldwide prevalence of hypospadias. J Pediatr Urol. 2016; 12(3): 152e1-e7. 3. Hughes IA, Nihoul-Fekete C, Thomas B, Cohen- Kettenis PT. Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. Best Pract Res Clin Endocrinol Metab. 2007; 21(3): 351-365. 4. de la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981; 58(1): 105-116. 5. Johnson JA, Aughton DJ, Comstock CH, von Oeyen PT, Higgins JV, Schulz R. Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. Am J Med Genet. 1994; 49(2): 240-243. 6. Rutledge JC, Friedman JM, Harrod, MJ, Currarino G, Wright CG, Pinckney L, et al. A “new” lethal multiple congenital anomaly syndrome: Joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. Am J Med Genet. 1984; 19(2): 255-64. 7. Patek CE, Little MH, Fleming S, Miles C, Charlieu JP, Clarke AR, et al. A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. Proc Natl Acad Sci USA. 1999; 96(6): 2931-2936. 8. Berta P, Morin D, Poulat F, Taviaux S, Lobaccaro JM, Sultan C, et al. Molecular analysis of the sexdetermining region from the Y chromosome in two patients with Frasier syndrome. Horm Res. 1992; 37(3): 103-106. 9. Narahara K, Kikkawa K, Kimira S, Kimoto H, Ogata M, Kasai R, et al. Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306. Hum Genet. 1984; 66(2- 3): 181-185. 10. vanHeyningen V, Bickmore WA, Seawright A, Fletcher JM, Maule J, Fekete G, et al. Role for the Wilms tumor gene in genital development? ProcNatl Acad Sci USA. 1990; 87(14): 5383-5386. 11. Waters PD, Wallis MC, Marshall Graves JA. Mammalian sex--Origin and evolution of the Y chromosome and SRY. Semin Cell Dev Biol. 2007; 18(3): 389-400. 12. Sekido R, Lovell-Badge R. Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature. 2008; 453(7197): 930-934. 13. Sekido R, Bar I, Narvaez V, Penny G, Lovell-Badge R. SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors. Dev Biol. 2004; 274(2): 271-279. 14. Palmer SJ, Burgoyne PS. In situ analysis of fetal, prepuberal and adult XX----XY chimaeric mouse testes: Sertoli cells are predominantly, but not exclusively, XY. Development. 1991; 112(1): 265-268. 15. Stevanovic M, Lovell-Badge R, Collignon J, Goodfellow PN. SOX3 is an X-linked gene related to SRY. Hum Mol Genet. 1993; 2(12): 2013-2018. 16. Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, Rastan S, et al. A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. Development. 1996; 122(2): 509-520. 17. Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, et al. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet. 2002; 71(6): 1450-1455. 18. Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, et al. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet. 2005; 76(5): 833-849. 19. Rizzoti K, Brunelli S, Carmignac D, Thomas PQ, Robinson IC, Lovell-Badge R. SOX3 is required during the formation of the hypothalamo-pituitary axis. Nat Genet. 2004; 36(3): 247-255. 20. Dee CT, Hirst CS, Shih YH, Tripathi VB, Patient RK, Scotting PJ. Sox3 regulates both neural fate and differentiation in the zebrafish ectoderm. Dev Biol. 2008; 320(1): 289-301. 21. Bylund M, Andersson E, Novitch BG, Muhr J. Vertebrate neurogenesis is counteracted by Sox1-3 activity. Nat Neurosci. 2003; 6(11): 1162-1168. 22. Rizzoti K, Lovell-Badge R. SOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesis. Development. 2007; 134(19): 3437-3448. 23. des Portes V, Carrie A, Billuart P, Kieffer V, Bienvenu T, Vinet MC, et al. Inherited microdeletion in Xp21.3- 22.1 involved in non-specific mental retardation. Clin Genet. 1998; 53(2): 136-141. 24. Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, et al. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet. 1999; 23(1): 25-31. 25. Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, et al. Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. J Med Genet. 2004; 41(9): 669-678. 26. Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, et al. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest. 2011; 121(1): 328-341. 27. Grinspon RP, Nevado J, Mori Alvarez Mde L, Del Rey G, Castera R, Venara M, et al. 46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy. Clin Endocrinol (Oxf). 2016; 85(4): 673-675. 28. Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, et al. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012; 91(6): 987-997. 29. Kulle AE, Riepe FG, Melchior D, Hiort O, Holterhus PM. A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydro-testosterone in pediatric blood samples: Ageand sex-specific reference data. J Clin Endocrinol Metab. 2010; 95(5): 2399-2409. 30. Kulle AE, Welzel M, Holterhus PM, Riepe FG. Implementation of a liquid chromatography tandem mass spectrometry assay for eight adrenal C-21 steroids and pediatric reference data. Horm Res Paediatr. 2013; 79(1): 22-31. 31. Kulle AE, Riepe FG, Hedderich J, Sippell WG, Schmitz J, Niermeyer L, et al. LC-MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: Implications for detecting heterozygote CYP21A2 mutation carriers. Eur J Endocrinol. 2015; 173(4): 517-524. 32. Padmanabhan S, Melander O, Johnson T, Di Blasio AM, Lee WK, Gentilini D, et al. Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. PLoS Genet. 2010; 6(10): e1001177. 33. Verbitsky M, Sanna-Cherchi S, Fasel DA, Levy B, Kiryluk K, Wuttke M, et al. Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest. 2015; 125(5): 2171-2178. 34. Westland R, Verbitsky M, Vukojevic K, Perry BJ, Fasel DA, Zwijnenburg PJ, et al. Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. Kidney Int. 2015; 88(6): 1402-1410. 35. Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, et al. Genetic drivers of kidney defects in the DiGeorge syndrome. N Engl J Med. 2017; 376(8): 742-754. 36. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007; 81(3): 559-575. 37. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, et al. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res. 2007; 17(11): 1665-1674. 38. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011; 70(5): 863-885. 39. Lagerstrom-Fermer M, Sundvall M, Johnsen E, Warne GL, Forrest SM, Zajac JD, et al. X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. Am J Hum Genet. 1997; 60(4): 910-916. 40. Hamel BC, Smits AP, Otten BJ, van den Helm B, Ropers HH, Mariman EC. Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings. Am J Med Genet. 1996; 64(1): 35-41. 41. Gucev Z, Tasic V, Plaseska-Karanfilska D, Konstantinova MK, Stamatova A, Dimishkovska M, et al. LHX4 gene alterations: Patient report and review of the literature. Pediatr Endocrinol Rev. 2016; 13(4): 749-755. 42. Mojsin M, Stevanovic M. PBX1 and MEIS1 up-regulate SOX3 gene expression by direct interaction with a consensus binding site within the basal promoter region. Biochem J. 2009; 425(1): 107-116. 43. Schnabel CA, Godin RE, Cleary ML. Pbx1 regulates nephrogenesis and ureteric branching in the developing kidney. Dev Biol. 2003; 254(2): 262-276. 44. Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, Ray PF, et al. PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. J Med Genet. 2017; 54(7): 502-510.



Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006