Lardoeyt FR, Rodriguez PR, Camacho A, Jijón AM

Language: Spanish
References: 9
Page: 64-69
PDF size: 641.09 Kb.

ABSTRACT

Consanguinity and family history are important genetic risk factors associated with many genetic diseases and congenital defects. Their association with intellectual disability is given by the increased homozygosity of many recessive genes that produce some kinds of disabilities such as inborn errors of metabolism, and non-syndromic autosomal recessive mental retardation. It was decided to determine the number of cases with a history of consanguinity between the parents and family history of mental retardation of varying degrees, as a manifestation of family aggregation and the multifactorial nature of the intellectual disability. A cross-sectional study comprising 68 687 persons with intellectual disability was carried out and 4 367 reported a history of consanguinity between their parents (6,35 %), while 16 339 had a family history of intellectual disability (23,78 %). Consanguinity and family history had a greater impact in the Amazonia. Finally it was demonstrated that between these two variables and those individuals with genetic etiology intellectual disability, there is a statistically significant relationship, which constitutes a major risk factor.

REFERENCES

1. Noel Taboada Lugo, Roberto Lardoeyt Ferrer. Impacto de la consanguinidad en recién nacidos con Defectos Congénitos en Asmara, Eritrea. Rev Cubana Genet Comunit. 2008;2(3):20-27.

2. Milagros Alonso Blanco, R. Palencia, A. Blanco, Yolanda de Diego Otero, J. J. Tellería, B. López, N. Navarro, Isabel Fernández Carvajal, M. Durán. Enfermedades autosómicas recesivas con retraso mental. Rev Neurol. 2006;42(1):39-43.

3. Herencia Multifactorial. [fecha de acceso 18 de Abril del 2010]. URL disponible en: http://www.childrenscentralcal.org/ Espanol/xHealthS/P05236/Pages/P05241.aspx.

4. Araceli Lantigua Cruz, Miriam Portuondo Sao, Roberto Lardoeyt Ferrer, Estela Morales Peralta, Iris A. Rojas Betancourt, Fidel Moras Bracero. Instrumento de clasificación inicial de factores causales de retraso mental. [en línea] 2008 [fecha de acceso 1 de octubre de 2010]. URL disponible en: http://www. files.sld.cu/genetica/files/2010/08/resultados-cientificos- 2008.doc

5. Jazayeri R, Saberi SH, Soleymanzadeh M. Etiological characteristics of people with intellectual disability in Iran. Neurosciences (Riyadh). 2010 Oct;15(4):258-61.

6. Morava E, Kühnisch J, Drijvers JM, Robben JH, Cremers C, van Setten P, Branten A, Stumpp S, de Jong A, Voesenek K, Vermeer S, Heister A, Claahsen-van der Grinten HL, O’Neill CW, Willemsen MA, Lefeber D, Deen PM, Kornak U, Kremer H, Wevers RA. Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. J Clin Endocrinol Metab. 2011 Jan;96(1):E189-98.

7. Alkuraya FS. Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity. Am J Med Genet A. 2010 Sep;152A(9):2160-3.

8. Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin-ud-Din M, Feuk L, Vincent JB, Scherer SW. Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. Clin Genet. 2010 Nov;78(5):478-83.

9. Al-Jarallah AS. Down’s syndrome and the pattern of congenital heart disease in a community with high parental consanguinity. Med Sci Monit. 2009Aug;15(8):CR409-12.