Cytogenetic and Molecular Genetic Characterization of Children with Short Stature / Citogenetska in Molekularno Genetska Opredelitev Nizke Rasti Pri Otrocih

1. D’haene B, Hellemans J, Craen M, De Schepper J, Devriendt K, Fryns JP. et al. Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. J Clin Endocrinol Metab 2010; 95: 3010-8.10.1210/jc.2009-221820375215Search in Google Scholar

2. Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M. et al. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 2002; 87: 1402-6.10.1210/jcem.87.3.832811889216Search in Google Scholar

3. Chial H. Polygenic inheritance and gene mapping. Nature Educ 2008; 1: 17.Search in Google Scholar

4. van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ. et al. Copy number variants in patients with short stature. Eur J Hum Genet 2014; 22: 602-9.10.1038/ejhg.2013.203399256524065112Search in Google Scholar

5. Binder G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr 2011; 75: 81-9.10.1159/00032410521325865Search in Google Scholar

6. Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA. et al. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet 2007; 44: 306-13.10.1136/jmg.2006.046581259798017182655Search in Google Scholar

7. Stuppia L, Calabrese G, Gatta V, Pintor S, Morizio E, Fantasia D. et al. SHOX mutations detected by FISH and direct sequencing in patients with short stature. J Med Genet 2003; 40: E11.10.1136/jmg.40.2.e11173537112566529Search in Google Scholar

8. Lutchman N. Short stature in children. Continuing Med Educ 2006; 24: 372.Search in Google Scholar

9. McEvoy BP, Visscher PM. Genetics of human height. Econ Hum Biol 2009; 7: 294-306.10.1016/j.ehb.2009.09.00519818695Search in Google Scholar

10. Helena Mangs A, Morris BJ. The Human Pseudoautosomal Region (PAR): origin, function and future. Curr Genomics 2007; 8: 129-36.10.2174/138920207780368141243535818660847Search in Google Scholar

11. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A. et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997; 16: 54-63.10.1038/ng0597-549140395Search in Google Scholar

12. Amorim MR, Vargas FR, Llerena JC Jr, Pombo-de-Oliveira MS. DNA extraction from fixed cytogenetic cell suspensions. Genet Mol Res 2007; 6: 500-3.Search in Google Scholar

13. Morizio E, Stuppia L, Gatta V, Fantasia D, Guanciali Franchi P, Rinaldi MM. et al. Deletion of the SHOX gene in patients with short stature of unknown cause. Am J Med Genet A 2003; 119A: 293-6.10.1002/ajmg.a.2019812784295Search in Google Scholar

14. Huber C, Rosilio M, Munnich A, Cormier-Daire V. French SHOX GeNeSIS Module. High incidence of SHOX anomalies in individuals with short stature. J Med Genet 2006; 43: 735-9.10.1136/jmg.2006.040998256457316597678Search in Google Scholar

15. Binder G, Schwarze CP, Ranke MB. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. J Clin Endocrinol Metab 2000; 85: 245-9.10.1210/jcem.85.1.637510634394Search in Google Scholar

16. Musebeck J, Mohnike K, Beye P, Tönnies H, Neitzel H, Schnabel D. et al. Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature. Eur J Pediatr 2001; 160: 561-5.10.1007/s00431010079011585080Search in Google Scholar

17. Benito-Sanz S, Aza-Carmona M, Rodríguez-Estevez A, Rica-Etxebarria I, Gracia R, Campos-Barros A. et al. Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature. Eur J Hum Genet 2012; 20: 125-7.10.1038/ejhg.2011.210323452422071895Search in Google Scholar

18. Benito-Sanz S, Royo JL, Barroso E, Paumard-Hernández B, Barreda- Bonis AC, Liu P. et al. Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. J Med Genet 2012; 49: 442-50.10.1136/jmedgenet-2011-10067822791839Search in Google Scholar

19. Gatta V, Antonucci I, Morizio E, Palka C, Fischetto R, Mokini V. et al. Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. J Hum Genet 2007; 52: 21-7.10.1007/s10038-006-0074-517091221Search in Google Scholar

20. Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D. et al. Rare copy number variants are a common cause of short stature. PLoS Genet 2013; 9: e1003365.10.1371/journal.pgen.1003365359749523516380Search in Google Scholar

21. Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JR. et al. Diabetes Genetics Initiative; Wellcome Trust Case Control Consortium, Davey Smith G, Groop LC, Hattersley AT, McCarthy MI, Hirschhorn JN, Frayling TM. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet 2007; 39: 1245-50.10.1038/ng2121308627817767157Search in Google Scholar

22. Yang TL, Guo Y, Zhang LS, Tian Q, Yan H, Guo YF, Deng HW. HMGA2 is confirmed to be associated with human adult height. Ann Hum Genet 2010; 74: 11-6.10.1111/j.1469-1809.2009.00555.x297247519930247Search in Google Scholar