publication . Article . 2011

Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II

Martalucía Tamayo; Greizy López; Nancy Gelvez;
Open Access English
  • Published: 16 Apr 2011 Journal: Biomédica: revista del Instituto Nacional de Salud (issn: 0120-4157, eissn: 0120-4157, Copyright policy)
  • Publisher: Instituto Nacional de Salud
Abstract
Introducción. El síndrome de Usher se caracteriza por hipoacusia neurosensorial congénita, retinitis pigmentaria y disfunción vestibular. Es la causa más frecuente de sordo-ceguera en el mundo. Se divide en tres tipos clínicos y doce subtipos genéticos. El tipo II es la forma más común y cerca de 80 % de los casos corresponden al subtipo 2 del síndrome de Usher. Objetivo. Establecer la frecuencia de mutaciones en la isoforma corta del gen USH2A en individuos colombianos con síndrome de Usher, tipo II. Materiales y métodos. Se estudiaron 26 individuos colombianos con diagnóstico clínico de síndrome de Usher, tipo II. Se hizo análisis de SSCP para los 20 exones qu...
Subjects
free text keywords: Usher syndromes/genetics, retinitis pigmentosa, hearing loss, sensorineural, Genetics, DNA mutational analysis, Colombia., Medicine, R, Arctic medicine. Tropical medicine, RC955-962, General Biochemistry, Genetics and Molecular Biology, General Medicine, síndromes de Usher, retinitis pigmentaria, pérdida auditiva neurosensorial, análisis de mutación de ADN, Colombia, Usher syndromes, hearing loss, sensorineural, Exon, Usher syndrome, medicine.disease, Gene, Gene isoform, Sindrome de, Mutation, medicine.disease_cause, Biology
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32 references, page 1 of 3

1. Boughman JA, Vernon M, Shaver KA. Usher syndrome: Definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36:595-603. [OpenAIRE]

2. Keats BJ, Corey DP. The usher syndromes. Am J Med Genet. 1999;89:158-66.

3. Hallgren B. Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and geneticostatistical study. Acta Psychiatr Scand 1959;34(Suppl.):1- 101.

4. Tamayo M, Bernal JE, Tamayo GE, Frias JL. Study of the etiology of deafness in an institutionalized population in Colombia. Am J Med Genet. 1992;44:405-8. [OpenAIRE]

5. Tamayo ML, Bernal JE, Tamayo GE, Frias JL, Alvira G, Vergara O, et al. Usher syndrome: Results of a screening program in Colombia. Clin Genet. 1991;40:304-11.

6. Tamayo ML, Maldonado C, Plaza SL, Alvira GM, Tamayo GE, Zambrano M, et al. Neuroradiology and clinical aspects of Usher syndrome. Clin Genet. 1996;50:126-32.

20. Spandau UH, Rohrschneider K. Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch Clin Exp Ophthalmol. 2002;240:495-8. [OpenAIRE]

7. Pakarinen L, Tuppurainen K, Laippala P, Mantyjarvi M, Puhakka H. The ophthalmological course of Usher syndrome type III. Int Ophthalmol. 1995;19:307-11.

8. Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, MaEdmonds M, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science. 1998;280:1753-7. [OpenAIRE]

9. Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, et al. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci USA. 2007;104:4413-8.

10. Hope CI, Bundey S, Proops D, Fielder AR. Usher syndrome in the city of Birmingham--prevalence and clinical classification. Br J Ophthalmol. 1997;81:46-53. [OpenAIRE]

11. Ouyang XM, Hejtmancik JF, Jacobson SG, Li AR, Du LL, Angeli S, et al. Mutational spectrum in Usher syndrome type II. Clin Genet. 2004;65:288-93. [OpenAIRE]

12. Rosenberg T, Haim M, Hauch AM, Parving A. The prevalence of Usher syndrome and other retinal dystrophyhearing impairment associations. Clin Genet. 1997; 51: 314-21.

13. Pieke-Dahl S, Ohlemiller KK, McGee J, Walsh EJ, Kimberling WJ. Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIa. Hear Res. 1997;112:1-12.

14. Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet. 2000;66:1199-210.

32 references, page 1 of 3
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