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2025, Número 3

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Investigación en Discapacidad 2025; 11 (3)


Panel NGS para la pérdida auditiva no sindrómica: rendimiento diagnóstico y correlación genotipo-fenotipo en una población mexicana

Marín-Ríos ND, Jiménez-Romo AE, Arenas-Sordo ML

Idioma: Ingles.
Referencias bibliográficas: 25
Paginas: 101-108
Archivo PDF: 829.85 Kb.


RESUMEN

     


REFERENCIAS (EN ESTE ARTÍCULO)

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  2. Atik T, Bademci G, Diaz-Horta O, Blanton SH, Tekin M. Whole-exome sequencing and its impact in hereditary hearing loss. Genet Res. 2015; 97: e4.

  3. Imizcoz T, Prieto-Matos C, Manrique-Huarte R, Calavia D, Huarte A, Pruneda PC et al. Next-generation sequencing improves precision medicine in hearing loss. Front Genet. 2023; 14: 1264899.

  4. Quaio CRDAC, Coelho AVC, Moura LMS, Guedes RLM, Chen K, Ceroni JRM, et al. Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes. Front Genet. 2022; 13: 921324.

  5. Posukh OL, Maslova EA, Danilchenko VYu, Zytsar MV, Orishchenko KE. Functional consequences of pathogenic variants of the GJB2 gene (Cx26) localized in different Cx26 domains. Biomolecules. 2023; 13 (10): 1521.

  6. Liu C, Huang Y, Zhang Y, Ding H, Yu L, Wang A et al. Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice. Int J Pediatr Otorhinolaryngol. 2022; 161: 111258.

  7. Hernández-Juárez AA, Lugo-Trampe JDJ, Campos-Acevedo LD, Lugo-Trampe A, Treviño-González JL, de-la-Cruz-Ávila I et al. GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. Int J Pediatr Otorhinolaryngol. 2014; 78 (12): 2107-2112.

  8. Loeza-Becerra F, Rivera-Vega MDR, Martínez-Saucedo M, Gonzalez-Huerta LM, Urueta-Cuellar H, Berrruecos-Villalobos P et al. Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. Int J Pediatr Otorhinolaryngol. 2014; 78 (7): 1057-1060.

  9. Liang S, Li W, Chen Z, Yuan S, Wang Z. Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong. Mol Genet Genomic Med. 2023; 11 (8): e2185.

  10. Abe S, Kelley PM. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation. Am J Med Genet. 2001; 103 (4): 334-338.

  11. Groh D, Seeman P, Jilek M, Popelár J, Kabelka Z, Syka J. Hearing function in heterozygous carriers of a pathogenic GJB2 gene mutation. Physiol Res. 2013; 62 (3): 323-330.

  12. Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C et al. Benefits of exome sequencing in children with suspected isolated hearing loss. Genes. 2021; 12 (8): 1277.

  13. Panigrahi I, Kumari D, Kumar BNA. Single gene variants causing deafness in Asian indians. J Genet. 2021; 100 (2): 35.

  14. Rodriguez-Valero M, Pastolero A, Redfield S, Medrano A, Abreu-Gonzalez M, Gallardo-Ollervides JF et al. High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation. Laryngoscope Investig Otolaryngol. 2024; 9 (3): e1291.

  15. Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C et al. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat. 2006; 27 (3): 290-1.

  16. Klarov LA, Pshennikova VG, Romanov GP, Cherdonova AM, Solovyev AV, Teryutin FM, et al. Analysis of SLC26A4, FOXI1, and KCNJ10 gene variants in patients with incomplete partition of the cochlea and enlarged vestibular aqueduct (EVA) anomalies. Int J Mol Sci. 2022; 23 (23): 15372.

  17. 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 (1): 65.

  18. Lameiras AR, Goncalves AC, Santos R, O'Neill A, Reis LRD, Matos TD et al. The controversial p.Met34Thr variant in GJB2 gene: two siblings, one genotype, two phenotypes. Int J Pediatr Otorhinolaryngol. 2015; 79 (8): 1316-1319.

  19. Tang H, Fang P, Ward PA, Schmitt E, Darilek S, Manolidis S et al. DNA sequence analysis of GJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A. 2006; 140A (22): 2401-2415.

  20. Izumi K, Kohta T, Kimura Y, Ishida S, Takahashi T, Ishiko A et al. Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. Clin Genet. 2008; 74 (1): 93-95.

  21. Felix F, Ribeiro MG, Tomita S, Zalis MG. Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population. Braz J Otorhinolaryngol. 2019; 85 (1): 92-98.

  22. Steinberg SJ, Raymond GV, Braverman NE, Moser AB. Zellweger Spectrum Disorder. 2003. In: Adam MP, Feldman J, Mirzaa GM et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1448/

  23. Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AGH et al. Molecular basis of DFNB73: Mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet. 2009; 85 (2): 273-280.

  24. Zhang D, Wu J, Yuan Y, Li X, Gao X, Han M et al. A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss. Ann Hum Genet. 2022; 86 (4): 207-217.

  25. Wolf A, Frohne A, Allen M, Parzefall T, Koenighofer M, Schreiner MM et al. A novel mutation in SLC26A4 causes nonsyndromic autosomal recessive hearing impairment. Otol Neurotol. 2017; 38 (2): 173-179.




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