Molecular aspects and genetic counseling of overgrowth syndromes

Authors

  • Reinaldo Menéndez García Especialista de Segundo Grado en Genética Clínica. Profesor Auxiliar. Centro Provincial de Genética Médica. Pinar del Río.
  • Anitery Travieso Téllez Especialista de Primer Grado en Medicina General Integral y Genética Clínica. Centro Provincial de Genética Médica. Pinar del Río, Cuba.
  • Miladys Orraca Castillo Especialista de Segundo Grado en Genética Clínica. Profesora Auxiliar. Máster en Atención Integral al Niño. Centro Provincial de Genética Médica. Pinar del Río.
  • Deysi Licourt Otero Especialista de Primer Grado en Medicina General Integral y de Segundo Grado en Genética Clínica. Asistente. Máster en Atención Integral al Niño. Investigadora Agregada. Centro Provincial de Genética Médica. Pinar del Río.

Keywords:

Growth/genetics, Child development.

Abstract

Growth and development constitute two sets of very useful elements to determine the patients' health status in pediatric ages. Currently, there are proofs of numerous disorders of overgrowth, where a full number of leading factors have been identified both genetic and hormonal, up to the present, only the pathogenic mechanisms involved in a minority of these cases have been stated, since the etiology and pathogenesis plus the molecular basis of the anomalies coursing with overgrowth are very complex and partially known. Despite this disorder is relatively frequent in the population, this research deepened in knowledge regarding the molecular aspects associated with the genesis of overgrowth syndromes, the genetic origin as well as the process of the necessary genetic counseling to treat patients and their families; explaining at the same time the biochemical mechanisms involve in its origin in order to back up the need of Individualized Genetic Counseling to patients and families suffering from this syndrome.

Downloads

Download data is not yet available.

References

1. Sotos JF, Argente J. Overgrowth disorders associated with tall stature. Adv Pediatr. [Internet]. 2008 [citado 28 Mar 2012]; 55: [Aprox. 34p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/19048732

2. Thomsett MJ. Referrals for tall stature in children: a 25-year personal experience. J Paediatr Child Health. [Internet]. Ene-Feb 2009 [citado 28 Mar 2012]; 45(1-2): [Aprox. 6 p.]. Disponible en: http://dx.doi.org/10.1111/j.1440-1754.2008.01428.x

3. Ekmektzoglou K, Demestiha T, Troupis G, Xanthos T. Commonest Overgrowth Syndromes. Fetal Pediatr Pathol. [Internet]. Abr 2012 [citado 28 Mar 2012]; 31(2): [Aprox. 16p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/22409408

4. Kant SG, Wit JM, Breuning MH. Genetic analysis of tall stature. Horm Res [Internet]. Sep 2005 [citado 28 Mar 2012]; 64(3): [Aprox. 8 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/16192740

5. Cohen MM, Neri G, Weksberg R. Overgrowth Syndromes. England: Oxford University Press; 2002.

7. Neri G, Moscarda M. Overgrowth syndromes: a classification. Endocr Dev [Internet]. 2009 [citado 28 Mar 2012]; 14: [aprox. 8 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/19293574

8. Lapunzina P, Gracia Bouthelier R. Prevención y detección precoces de neoplasias en los síndromes de sobrecrecimiento. Pediatr Integra. 2006; 10(8).

9. Romanelli V. Análisis genético y correlaciones clínico-moleculares en pacientes con síndrome de sobrecrecimiento. [Tesis Doctoral]. España: Universidad Autónoma de Madrid; 2010 [citado 28 Mar 2012]. Disponible en: http://www.tdx.cat/handle/10803/50341

10. Chawarska K, Campbell D, Chen L, Shic F, Klin A, Chang J. Early generalized overgrowth in boys with autism. Arch Gen Psychiatry. [Internet]. 2011 [citado 28 Mar 2012]; 68(10): [Aprox. 10p.]. Disponible en: http://archpsyc.ama-assn.org/cgi/content/abstract/68/10/1021

11. Choufani S, Shuman C, Weksberg R. 2010. Beckwith_Wiedemann syndrome. Am J Med Genet Part C 153C:343-354.

12. Ruggieri VL, Arberas CL. Síndromes genéticos reconocibles en el periodo neonatal. Medicina (Buenos Aires) [Internet]. 2009 [citado 28 Mar 2012]; 69(1/1): [Aprox. 21p.]. Disponible en: http://www.scielo.org.ar/pdf/medba/v69n1s1/v69n1s1a04.pdf

13. Marín Gómez P, García García E, Lapunzina Badía P. Caracterización y Atención Temprana del Síndrome de Sotos. Psicología Educativa. [Internet]. 2011 [citado 28 Mar 2012]; 17(2): [Aprox. 16 p.]. Disponible en: http://www.copmadrid.org/webcopm/publicaciones/educativa/ed2011v17n2a7.pdf

14. Valle Domínguez JM. Caracterización molecular del síndrome de sotos y estudio de otras causas genéticas de hipercrecimiento. [Internet]. Universidad Pompeu Fabra; 2009 [citado 28 Mar 2012]. Disponible en: http://repositori.upf.edu/handle/10230/12274?show=full

15. Chen H. Atlas of genetic diagnosis and counseling: Silver-Russell Syndrome. Totowa: Human Press; 2006.

16. Chaffins JA. Marfan syndrome. Radiol Technol. [Internet]. 2007 [citado 28 Mar 2012]; 78(3): [Aprox. 14]. Disponible en: http://www.radiologictechnology.org/content/78/3/222.abstract

17. Bonetti MI . Microfibrils: a cornerstone of extracellular matrix and a key to understand Marfan syndrome. Ital J Anat Embryol. [Internet]. 2009 [citado 28 Mar 2012]; 114(4): [Aprox. 23p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/20578676

18. Zangwill SD, Brown MD, Bryke CR, Cava JR, Segura AD. Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1. Congenital Heart Dis [Internet]. Sep-Oct 2006 [citado 28 Mar 2012]; 1(5): [aprox. 4 p.]. Disponible en: http://dx.doi.org/10.1111/j.1747-0803.2006.00040.x

19. Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A. Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver_Russell syndrome. Hum Mol Genet [Internet]. 2011 [citado 28 Mar 2012]; 20(7): [Aprox. 12 p.]. Disponible en: http://hmg.oxfordjournals.org/content/20/7/1363.full.pdf+html

20. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet [Internet]. 2010 [citado 28 Mar 2012]; 18(1): [aprox. 7 p.]. Disponible en: http://www.nature.com/ejhg/journal/v18/n1/pdf/ejhg2009106a.pdf

21. Romanelli V, Meneses HM, Fernández L, Martínez González V, Gracia-Bouthelier R, Fraga MF, et al. Beckwith_Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques. Eur J Hum Genet. [Internet]. 2011 [citado 28 Mar 2012]; 19 (4): [Aprox. 6p.]. Disponible en: http://www.nature.com/ejhg/journal/v19/n4/pdf/ejhg2010236a.pdf

22. Spivey PS, Bradshaw WT. Recognition and management of the infant with Beckwith-Wiedemann Syndrome. Adv Neonatal Care. [Internet]. 2009 [citado 28 Mar 2012]; 9(6): [Aprox. 5p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/20010144

23. Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, et al. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet [Internet]. 2009 [citado 28 Mar 2012]; 17(5): [Aprox. 9 p.]. Disponible en: http://www.nature.com/ejhg/journal/v17/n5/pdf/ejhg2008233a.pdf

24. Pasillas MP, Shah M, Kamps M. NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome. Human Mutation. [Internet]. Mar 2011 [citado 28 Mar 2012]; 32(3): [Aprox. 7 p.]. Disponible en: http://dx.doi.org/10.1002/humu.21424

25. Cytrynbaum CS, Smith AC, Rubin T, Weksberg R. Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome. Curr Opin Pediatr. [Internet]. 2005 [citado 28 Mar 2012]; 17(6): [Aprox. 6p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/16282780

26. Mussa A, Chiesa N, Porta F, Baldassarre G, Silengo MC, Ferrero GB. The overlap between Sotos and Beckwith-Wiedemann syndromes. J Pediatr. [Internet]. 2010 [citado 28 Mar 2012]; 156(6): [Aprox. 1p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/20394943

27. Weaver Syndrome 1 [Internet]. OMIN: Johns Hopkins University; 2012 [citado 28 Mar 2012]. Disponible en:http://omim.org/entry/277590

28. Basel-Vanagaite L. Acute lymphoblastic leukemia in Weaver syndrome. Am J Med Genet A. [Internet]. Feb 2010 [citado 28 Mar 2012]; 152(2): [aprox. 4 p.]. Disponible en: http://dx.doi.org/10.1002/ajmg.a.33244

29. Ostos Alfonso H, Jara J, Ávila V. Síndrome Weaver: presentación de casos. Iatreia. [Internet]. 2010 [citado 28 Mar 2012]; 23(4). Disponible en: http://medicina.udea.edu.co/ojs/index.php/iatreia/article/viewArticle/1658

30. Rojas Betancourt I. Conferencia sobre Asesoramiento Genético. Ciudad de la Habana: Centro Nacional de Genética Médica; 2005.

Downloads

Published

2012-12-17

How to Cite

1.
Menéndez García R, Travieso Téllez A, Orraca Castillo M, Licourt Otero D. Molecular aspects and genetic counseling of overgrowth syndromes. Rev Ciencias Médicas [Internet]. 2012 Dec. 17 [cited 2025 Oct. 13];16(6):116-31. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/1000

Issue

Vol. 16 No. 6 (2012)

Section

REVIEW ARTICLES

License

Authors who have publications with this journal agree to the following terms: Authors will retain their copyrights and grant the journal the right of first publication of their work, which will be publication of their work, which will be simultaneously subject to the Creative Commons Attribution License (CC-BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.

Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g.: deposit it in an institutional telematic archive or publish it in a volume). Likewise, and according to the recommendations of the Medical Sciences Editorial (ECIMED), authors must declare in each article their contribution according to the CRediT taxonomy (contributor roles). This taxonomy includes 14 roles, which can be used to represent the tasks typically performed by contributors in scientific academic production. It should be consulted in monograph) whenever initial publication in this journal is indicated. Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which may produce interesting exchanges and increase citations of the published work. (See The effect of open access). https://casrai.org/credit/