Titulo:
Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
.
Guardado en:
1794-2470
2462-9448
12
2015-12-31
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UNIVERSIDAD COLEGIO MAYOR DE CUNDINAMARCA |
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Colombia |
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NOVA |
| title |
Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial |
| spellingShingle |
Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial López, Greizy Gelvez, Nancy Yaneth Urrego, Luisa Fernanda Florez, Silvia Medina, David Rodríguez, Vicente Tamayo, Marta Lucía Usher Syndromes Deaf-Blind Disorders Sensorineural Hearing Loss Retinitis Pigmentosa Mutation Síndrome de Usher Trastornos sordoceguera Pérdida auditiva sensorineural Retinitis pigmentosa Mutación |
| title_short |
Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial |
| title_full |
Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial |
| title_fullStr |
Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial |
| title_full_unstemmed |
Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial |
| title_sort |
análisis molecular de las mutaciones 2299delg y c759f en individuos colombianos con retinitis pigmentosa e hipoacusia neurosensorial |
| author |
López, Greizy Gelvez, Nancy Yaneth Urrego, Luisa Fernanda Florez, Silvia Medina, David Rodríguez, Vicente Tamayo, Marta Lucía |
| author_facet |
López, Greizy Gelvez, Nancy Yaneth Urrego, Luisa Fernanda Florez, Silvia Medina, David Rodríguez, Vicente Tamayo, Marta Lucía |
| topic |
Usher Syndromes Deaf-Blind Disorders Sensorineural Hearing Loss Retinitis Pigmentosa Mutation Síndrome de Usher Trastornos sordoceguera Pérdida auditiva sensorineural Retinitis pigmentosa Mutación |
| topic_facet |
Usher Syndromes Deaf-Blind Disorders Sensorineural Hearing Loss Retinitis Pigmentosa Mutation Síndrome de Usher Trastornos sordoceguera Pérdida auditiva sensorineural Retinitis pigmentosa Mutación |
| citationvolume |
12 |
| citationissue |
22 |
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Universidad Colegio Mayor de Cundinamarca y Universidad Nacional Abierta y a Distancia - UNAD |
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NOVA |
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https://revistas.unicolmayor.edu.co/index.php/nova/article/view/269 |
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Article |
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https://creativecommons.org/licenses/by-nc-sa/4.0/ info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 |
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info:eu-repo/semantics/article |
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info:eu-repo/semantics/publishedVersion |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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Text |
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2015-12-31 |
| date_accessioned |
2014-12-31 00:00:00 |
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2014-12-31 00:00:00 |
| url |
https://revistas.unicolmayor.edu.co/index.php/nova/article/view/269 |
| url_doi |
https://doi.org/10.22490/24629448.1038 |
| issn |
1794-2470 |
| eissn |
2462-9448 |
| doi |
10.22490/24629448.1038 |
| url2_str_mv |
https://revistas.unicolmayor.edu.co/index.php/nova/article/download/269/511 |
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https://revistas.unicolmayor.edu.co/index.php/nova/article/download/269/512 |
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Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial López, Greizy Gelvez, Nancy Yaneth Urrego, Luisa Fernanda Florez, Silvia Medina, David Rodríguez, Vicente Tamayo, Marta Lucía Usher Syndromes Deaf-Blind Disorders Sensorineural Hearing Loss Retinitis Pigmentosa Mutation Síndrome de Usher Trastornos sordoceguera Pérdida auditiva sensorineural Retinitis pigmentosa Mutación 12 22 Artículo de revista Journal article 2014-12-31 00:00:00 2014-12-31 00:00:00 2015-12-31 application/pdf text/html Universidad Colegio Mayor de Cundinamarca y Universidad Nacional Abierta y a Distancia - UNAD NOVA 1794-2470 2462-9448 https://revistas.unicolmayor.edu.co/index.php/nova/article/view/269 10.22490/24629448.1038 https://doi.org/10.22490/24629448.1038 https://creativecommons.org/licenses/by-nc-sa/4.0/ Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36(8):595-603. 2.Keats BJ, Corey DP. The usher syndromes. Am J Med Genet. 1999 Sep 24;89(3):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 genetico-statistical study. Acta Psychiatr Scand Suppl. 1959;34(138):1-101. 4.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 Oct;40(4):304-11. 5.Tamayo ML, Bernal JE, Tamayo GE, Frias JL. Study of the etiology of deafness in an institutionalized population in Colombia. Am J Med Genet. 1992 Nov 1;44(4):405-8. 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 Sep;50(3):126-32. 7.Pakarinen L, Tuppurainen K, Laippala P, Mantyjarvi M, Puhakka H. The ophthalmological course of Usher syndrome type III. Int Ophthalmol. 1995;19(5):307-11. 8.Kimberling WJ, Moller CG, Davenport S, Priluck IA, Beighton PH, Greenberg J, et al. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics. 1992 Dec;14(4):988-94. 9.Smith RJ, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJ, et al. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics. 1992 Dec;14(4):995-1002. 10.Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001 Jan;68(1):26-37. 11.Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001 Jul;69(1):25-34. 12.Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 2003 Mar 1;12(5):463-71. 13.Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, et al. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet. 2012 Nov;44(11):1265-71. 14.Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science. 1998 Jun 12;280(5370):1753-7. 15.Hmani M, Ghorbel A, Boulila-Elgaied A, Ben Zina Z, Kammoun W, Drira M, et al. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. Eur J Hum Genet. 1999 Apr;7(3):363-7. 16.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 Apr;66(4):1199-210. 17.Weston MD, Luijendijk MW, Humphrey KD, Moller C, Kimberling WJ. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet. 2004 Feb;74(2):357-66. 18.Yang J, Wang L, Song H, Sokolov M. Current understanding of usher syndrome type II. Front Biosci (Landmark Ed). 2012; 17:1165-83. 19.Kimberling WJ, Weston MD, Moller C, Davenport SL, Shugart YY, Priluck IA, et al. Localization of Usher syndrome type II to chromosome 1q. Genomics. 1990 Jun;7(2):245-9. 20.Joensuu T, Hamalainen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, et al. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet. 2001 Oct;69(4):673-84. 21.Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, et al. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet. 2002 Jun;10(6):339-50. 22.Hope CI, Bundey S, Proops D, Fielder AR. Usher syndrome in the city of Birmingham--prevalence and clinical classification. Br J Ophthalmol. 1997 Jan;81(1):46-53. 23.Rosenberg T, Haim M, Hauch AM, Parving A. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet. 1997 May;51(5):314-21. 24.Ouyang XM, Hejtmancik JF, Jacobson SG, Li AR, Du LL, Angeli S, et al. Mutational spectrum in Usher syndrome type II. Clin Genet. 2004 Apr;65(4):288-93. 25.Pieke-Dahl S, van Aarem A, Dobin A, Cremers CW, Kimberling WJ. Genetic heterogeneity of Usher syndrome type II in a Dutch population. J Med Genet. 1996 Sep;33(9):753-7. 26.van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, et al. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet. 2004 Apr;74(4):738-44. 27.Beneyto MM, Cuevas JM, Millan JM, Espinos C, Mateu E, Gonzalez-Cabo P, et al. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). Ophthalmic Genet. 2000 Jun;21(2):123-8. 28.Dreyer B, Tranebjaerg L, Rosenberg T, Weston MD, Kimberling WJ, Nilssen O. Identification of novel USH2A mutations: implications for the structure of USH2A protein. Eur J Hum Genet. 2000 Jul;8(7):500-6. 29.Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster AR, et al. Spectrum of mutations in USH2A in British patients with Usher syndrome type II. Exp Eye Res. 2001 May;72(5):503-9. 30.Bernal S, Ayuso C, Antinolo G, Gimenez A, Borrego S, Trujillo MJ, et al. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet. 2003 Jan;40(1):e8. 31.Lopez G, Gelvez NY, Tamayo M. [Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II]. Biomedica. 2011 Mar;31(1):82-90. 32.Liu XZ, Hope C, Liang CY, Zou JM, Xu LR, Cole T, et al. A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet. 1999 Apr;64(4):1221-5. 33.Aller E, Larrieu L, Jaijo T, Baux D, Espinos C, Gonzalez-Candelas F, et al. The USH2A c.2299delG mutation: dating its common origin in a Southern European population. Eur J Hum Genet. 2010 Jul;18(7):788-93. 34.Najera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millan JM, et al. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Hum Mutat. 2002 Jul;20(1):76-7. 35.Rivolta C, Sweklo EA, Berson EL, Dryja TP. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet. 2000 Jun;66(6):1975-8. 36.Aller E, Najera C, Millan JM, Oltra JS, Perez-Garrigues H, Vilela C, et al. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Eur J Hum Genet. 2004 May;12(5):407-10. 37.Garcia-Garcia G, Aparisi MJ, Jaijo T, Rodrigo R, Leon AM, Avila-Fernandez A, et al. Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Orphanet J Rare Dis. 2011;6:65. 38.Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Usami S, Mizuta K, et al. Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. J Hum Genet. 2011 Jul;56(7):484-90. 39.Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, et al. The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients. J Hum Genet. 2014 Sep;59(9):521-8. 40.Vastinsalo H, Jalkanen R, Bergmann C, Neuhaus C, Kleemola L, Jauhola L, et al. Extended mutation spectrum of Usher syndrome in Finland. Acta Ophthalmol. 2013 Jun;91(4):325-34. 41.Huang XF, Xiang P, Chen J, Xing DJ, Huang N, Min Q, et al. Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. PLoS One. 2013;8(5):e63832. ========================================== DOI: http://dx.doi.org/10.22490/24629448.1038 https://revistas.unicolmayor.edu.co/index.php/nova/article/download/269/511 https://revistas.unicolmayor.edu.co/index.php/nova/article/download/269/512 info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 http://purl.org/coar/resource_type/c_2df8fbb1 http://purl.org/redcol/resource_type/ART info:eu-repo/semantics/publishedVersion http://purl.org/coar/version/c_970fb48d4fbd8a85 info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 Text Publication |