Vázquez-del Campo AR, Torres-Maldonado L, Sánchez-Sandoval S, Frías- Vázquez S, Lieberman-Hernández E, Del Castillo-Ruiz V, Yokoyama- Rebollar E

Language: Spanish
References: 22
Page: 271-281
PDF size: 1420.16 Kb.

ABSTRACT

The 5q34q35.3 duplication has been associated with a reversed Sotos syndrome because it contains double doses of NSD1 gene. We present a female patient with global developmental delay, low weight and height, dysmorphia, a history of surgical closer of atrial and ventricular septal defects and craniosynostosis. A karyotype reported a 5p duplication: 46,XX,add(5)(q35) and the FISH with WCP probes for chromosome 5 reports 46,XX,add(5)(q35).ish dup(5)(q35)(wcp5+). CytoScan HD Affymetrix Microarray was realized to define breakpoints that confirmed a de novo interstitial duplication of 14Mb 46,XX,add(5)(q35). arr[hg19] 5q34q35.3(163,110,984-177,227,216x3,177,259,401- 179,330,764x3,179,346,465-180,719,789x3)dn, which contains 80 genes (USCS genome browser, NCBI36 / hg19). The description of this case is important to complement the delineation of the phenotype and genotype of the 5q34q35.3 duplication. This case shows the importance and usefulness of the new molecular cytogenetic techniques, with which the detailed analysis of genes localized in the 5q region would not be possible, neither the correlation with its clinical manifestations.

REFERENCES

1. Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, et al. The phenotypic spectrum of duplication 5q35.2-q35.3 encom- passing NSD1: is it really a reversed Sotos syndrome? Am J Med Genet Part A. 2013;161A(9):2158-66.

2. Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A. Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. BMC Med Genet. 2013;14:13.

3. Kaiser-Rogers K, Rao KW: Translocations and Other Structural Rearrangements in Gersen SL, Keagle MB (eds), Principals of Clinical Cytogenetics; 3rd Edition, Springer, New York, 2013, Chapter 9, pp.139-174.

4. South ST. Chromosomal structural rearrangements: detection and elucidation of mechanisms using cytogenomic technologies. Clin Lab Med. 2011;31(4):513-24.

5. Levsky JM, Singer RH. Fluorescence in situ hybridization: past, present and future. J Cell Sci. 2003;116(Pt 14):2833–8.

6. Carter NP. Cytogenetic analysis by chromosome painting. Cytometry. 1994;18(1):2–10.

7. Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC. Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet. 2010;3:11.

8. Tatton-Brown K, Rahman N. The NSD1 and EZH2 overgrowth genes, similarities and differences. Am J Med Genet Part C Semin Med Genet. 2013;163C(2):86–91.

9. Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet. 2003;72(1):132–43.

10. Pelegrino K de O, Sugayama S, Lezirovitz K, Catelani A, Kok F, Chauffaille M de L. MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization. Clinics (Sao Paulo) 2012;67(8):981-5.

11. Wilkie A O. Craniosynostosis: genes and mechanisms. Hum Mol Genet. 1997;6(10):1647–56.

12. Wang J-C, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong S-L, Van Allen MI. Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis. Am J Med Genet Part A. 2007;143A(24):2931–6.

13. Xu W, Li Y, Wang X, Chen B, Wang Y, Liu S, Xu J, Zhao W, Wu J. FGFR4 transmembrane domain polymorphism and cancer risk: a meta-analysis including 8555 subjects. Eur J Cancer.2010;46(18):3332–8.

14. Vallaster M, Vallaster CD, Wu SM. Epigenetic mechanisms in cardiac development and disease. Acta Biochim Biophys Sin (Shangai). 2012;44(1):92-102.

15. Bernardini L, Capalbo A, Mokini V, Mingareli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B. Syndromic Craniosynostosis Due to Complex Chromosome 5 Rearrangement and MSX2 Gene Triplication. Am J Med Genet Part A. 2007; 143A:2937-2943.

16. Kariminejad A, Kariminejad R, Tzschach A, Ullmann R, Ahmed A, Asghari-Roodsari A, Salehpour S, Afroozan F, Ropers HH, Kariminejad MH. Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet Part A. 2009;149A(7):1544–9.

17. Rosenfeld JA, Kim KH, Angle B, Troxell R, Gorski JL, Westemeyer M, Frydman M, et al. Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. Mol Syndromol. 2013;3(6):247–54.

18. Chen CP, Lin SP, Lin CC, Chen YJ, Chern SR, Li YC, Hsieh LJ, Lee CC, Pan CW, Wang W. Molecular cytogenetic analysis of de novo dup(5)- (q35.2q35.3) and review of the literature of pure partial trisomy 5q. Am J Med Genet Part A 2006.140A:1594-1600.

19. Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW.. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet 2010;18:258–261.

20. Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T.. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J Med Genet. 2007;50:33–42.

21. Zhang H, Lu X, Beasley J, Mulvihill JJ, Liu R, Li S, Lee JY. Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age. Am J Med Genet A. 2011;155A:1374-1378.

22. Shaffer L, Lupski J. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu. Rev. Genet. 2000;34:297-329.