PHENOTYPIC VARIABILITY OF 17Q12 MICRODELETION SYNDROME – THREE CASES AND REVIEW OF LITERATURE
Țuțulan-Cuniță A, Pavel AG, Dimos L, Nedelea M, Ursuleanu A, Neacșu AT, Budișteanu M, Stambouli D
*Corresponding Author: Andreea Țuțulan-Cuniță, Cytogenomic Medical Laboratory, 35 Calea Floreasca, Bucharest, 14453, Romania, Tel: 0040212331354, Fax: 0040212331357, E-mail: cunita@cytogenomic.ro
page: 0

REFERENCES

1. Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007; 81: 1057–1069. 2. Nagamani SCS, Erez A, Shen J, Chumei L, Roeder E, Cox S et al.– Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010; 18: 278-284. 3. Kasperavičiūte D, Catarino CB, Chinthapalli K, Clayton LMS, Thom M, Martinian L et al. Uncovering genomic causes of co-morbidity in epilepsy: genedriven phenotypic characterization of rare microdeletions. PLoS ONE. 6(8): e23182. doi:10.1371/journal. pone.0023182. 4. Dixit A, Patel C, Harrison R, Jarvis J, Hulton S, Smith N et al. 17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum, Am J Med Genet A. 2012; 158(9): 2317–2321. 5. Palumbo P, Antona V, Palumbo O, Piccione M, Nardello R, Fontana A et al. Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case, Gene. 2014; 538: 373–378. 6. Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter SH, et al. 17q12 recurrent deletion syndrome, Gene Reviews, initial post 2016.12.8, accessed 2020.12.14. 7. Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C et al. 17q12 deletion and duplication syndrome in Denmark – a clinical cohort of 38 patients and review of literature. Am J. Med Genet A. 2016; 9999A: 1-9. 8. Laffargue F, Bourthoumieu S, Llanas B, Baudouin V, Lahoche A, Morin D et al. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome, Arch Dis Child. 2015; 100: 259-264. 9. Wan S, Zheng Y, Dang Y, Song T, Chen B, Zhang J. Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities. Mol Cytogenet. 2019; 12: 19-22. 10. Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S et al. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys, J. Am. Soc. Nephrol. 2007; 18: 923-933. 11. Donnelly JC, Platt LD, Rebarber A, Zachary J, Grobman WA, Wapner RJ. Association of copy number variants with specific ultrasonographically detected fetal anomalies, Obstetrics & Gynecol. 2014; 124 (1): 83-90. 12. Moreno-De-Luca D, SGENE Consortium, Mulle JG, Simon Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of) autism and schizophrenia. Am J Hum Genet. 2010; 87(1): 618-630. 13. Xi Q, Zhu X, Wang Y, Ru T, Dai C, Wang Z et al. Copy number diagnosis variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling. Prenat Diagn. 2016; 36: 463-468 14. Brabbing-Goldstein D, Reches A, Svirsky R, Bar- Shira A, Yaron Y – Dilemmas in genetic counseling for low-penetrance neuro-susceptibility loci detected on prenatal chromosomal microarray analysis, Am J Obstetrics Gynecol. 2017; https://doi.org/10.1016/j. ajog.2017.11.559. 15. Chen C-P, Chang S-D, Wang T-H, Wang L-K, Tsai J-D, Liu Y-P et al. Detection of recurrent transmission of 17q12 microdeletion by aCGH in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family. Taiwanese J Obstetr Gynec. 2013; 52: 551-557. 16. Hendrix NW, Clemens M, Canavan TP, Surti U, Rajkovic A. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. Fetal Diagn Ther. 2012; 31: 129-131. 17. Gilboa Y, Perlman S, Pode-Shakked N, Pode-Shaked B, Shrim A, Azaria-Lahov E et al. Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism. Prenat Diagn. 2016; 36: 1027-1032. 18. Jing X-Y, Huang L-Y, Zhen L, Han J, Li D-Z. Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case of series. J Obstetrics Gynaecol. 2019: https:// doi.org/10.1080/01443615.2018.1519693 19. Li R, Fu F, Zhang Y-L, Li D-Z, Liao C. Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies. Taiwanese Obstetrics & Gynecol. 2014; 53: 579-582. 20. Yap P, McGillivray G, Norris F, Said JM, Kornman L, Stark Z. Fetal phenotype of a 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases, Prenat Diagn. 2015; 35: 1265-1267. 21. Jones GE, Mousa HA, Rowley H, Houtman P, Vasudevan PC. Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and a review of the literature. Prenat Diagn. 2015; 35: 1336-1341. 22. George AM, Love DR, Hayes I, Tsang B. Recurrent transmission of a 17q12 microdeletion and a variable clinical spectrum, Mol Syndromology. 2012; 2(2): 72–75. 23. Loirat C, Bellanne-Chantelot C, Husson I, Deschenes G, Guigonis V, Chabane N. Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. Nephrol. Dial. Transplant. 2010; 25: 3430-3433. 24. Quintero-Rivera F, Woo JS, Bomberg EM, Wallace WD, Peredo J, Dipple KM. Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome. Am J Med Genet Part A. 2014; 164A: 3076–3082. 25. Goumy C, Laffargue F, Eymard-Pierre E, Kemeny S, Gay-Bellile M, Gouas L et al. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. Am J Med Genet Part A. 2015; 167A: 250–253. 26. Kaman K, Soffer G, Mitson-Salazar A. 17q12 and atopy; missing pieces of the puzzle? Abstracts: Medically Challenging Cases Abstracts/Ann Allergy Asthma Immunol. 2019; 123: S64eS142\ 27. Vasileiou G, Hoyer J, Thiel CT, Shaefer J, Zapke M, Krumbiegel M et al. Prenatal diagnosis of HNF1associated renal cysts: need to differentiate intragenic variants from 17q12 microdeletion syndrome? Prenat Diagn. 2019; 39(12): 1136-1147. 28. Roberts JL, Gandomi SK, Parra M, Lu I, Gau C-L, Dasouki M et al. Clinical report of a 17q12 microdeletion with additionally unreported clinical features. Case Rep Genet. 2014; DOI: dx.doi. org/10.1155/2014/264947. 29. Andersen BB, Schaffalitzky de Muckadell OB. [17q12 deletion as possible cause of agenesis of the dorsal pancreas and polycystic kidney disease]. Ugeskrift for Laeger. 2019; 181(47): Language:dan PMID: 31791446 30. Siolos A, Merkoviti A, Georgiu I, Siomou E, Tigas S. Congenital anomaly of the kidney and urinary tract and MODY 5 due to 17q12 deletion syndrome; a case report. Endocrine Abstracts 2020;70 AEP450 | DOI: 10.1530/endoabs.70.AEP450 31. Roehlen N, Hilger H, Stock F, Gläser B, Guhl J, Schmitt-Graeff A et al. 17q12 deletion syndrome as a rare cause for diabetes mellitus type MODY5. J Clin Endocrinol Metab. 2018; 103(10): 3601-3610. 32. Du T, Zeng N, Wen X, Zhu P, Li W. A rare combination of MODY and duodenal atresia in a patient: a case report. BMC Med Genet. 2020; 21: 24-28. 33. Velamani S, Gonuguntla K, Perosevic N, Vigneault C. Severe resistant hypomagnesemia as the first clinical presentation of 17q12 microdeletion syndrome, Chest Annual Meeting, Medical Student/ Resident Critical Care Posters, 2020. 34. Li HJ, Groden C, Hoenig MP, Ray EC, Ferreira CR, Gahl W et al. Case report: coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B. BMJ Nephrol. 2019; 20: 353-358. 35. Jiang YL, Qi QW, Zhou XY, Geng FF, Bai JJ Hao N et al. Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities. Zhonghua Fu Chan Ke Za Zhi. 2017; 52(10): 622-668. 36. Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med. 2013; 15(6): 478-481. 37. Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L et al. Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Intl. 2016; 90: 203–211. 38. Laliève F, Decramer S, Heidet L Baudouin V, Lahoche A, Llanas B et al. School level of children carrying a HNF1B variant or a deletion. Eur J Hum Genet. 2020; 28: 56–63. 39. Murray PJ, Thomas K, Mulgrew CJ, Ellard S, Edghill EL, Bingham C et al. Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome. Nephrol. Dial. Transplant. 2008; 23: 2412–2415. 40. The Fetal Medicine Foundation, https://fetalmedicine. org/education/fetal-abnormalities/urinary-tract/ multicystic-kidneys, (accessed 2020, May 24)



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