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2025, Número 3

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Investigación en Discapacidad 2025; 11 (3)


NGS panel for non-syndromic hearing loss: diagnostic yield and genotype-phenotype correlation in a Mexican population

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

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


RESUMEN

Sin 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 hereditaryhearing loss. Genet Res. 2015; 97: e4.

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

  4. Quaio CRDAC, Coelho AVC, Moura LMS, GuedesRLM, Chen K, Ceroni JRM, et al. Genomic study ofnonsyndromic hearing loss in unaffected individuals:Frequency of pathogenic and likely pathogenic variantsin 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 pathogenicvariants of the GJB2 gene (Cx26) localized in differentCx26 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 diagnosisand improves the management of patients with hearingloss 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 mutationsare an infrequent cause of autosomal-recessivenonsyndromic hearing loss in residents of Mexico. Int JPediatr Otorhinolaryngol. 2014; 78 (12): 2107-2112.

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

  9. Liang S, Li W, Chen Z, Yuan S, Wang Z. Analysis ofGJB2 gene mutations spectrum and the characteristicsof 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) mutationmodulates the severity of hearing loss associated withthe 1555A-->G mitochondrial mutation. Am J MedGenet. 2001; 103 (4): 334-338.

  11. Groh D, Seeman P, Jilek M, Popelár J, Kabelka Z,Syka J. Hearing function in heterozygous carriers of apathogenic 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 ofexome sequencing in children with suspected isolatedhearing loss. Genes. 2021; 12 (8): 1277.

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

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

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

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  17. Garcia-Garcia G, Aparisi MJ, Jaijo T, Rodrigo R, Leon AM,Avila-Fernandez A et al. Mutational screening of the USH2Agene in Spanish USH patients reveals 23 novel pathogenicmutations. Orphanet J Rare Dis. 2011; 6 (1): 65.

  18. Lameiras AR, Goncalves AC, Santos R, O’Neill A, ReisLRD, Matos TD et al. The controversial p.Met34Thrvariant in GJB2 gene: two siblings, one genotype, twophenotypes. Int J Pediatr Otorhinolaryngol. 2015; 79(8): 1316-1319.

  19. Tang H, Fang P, Ward PA, Schmitt E, Darilek S, ManolidisS et al. DNA sequence analysis of GJB2, encodingconnexin 26: Observations from a population of hearingimpaired cases and variable carrier rates, complexgenotypes, and ethnic stratification of alleles amongcontrols. 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 specificto mutations of MITF nuclear localization signal. ClinGenet. 2008; 74 (1): 93-95.

  21. Felix F, Ribeiro MG, Tomita S, Zalis MG. Frequencyof GJB2 mutations in patients with nonsyndromichearing loss from an ethnically characterized Brazilianpopulation. Braz J Otorhinolaryngol. 2019; 85 (1): 92-98.

  22. Steinberg SJ, Raymond GV, Braverman NE, MoserAB. 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: Mutationsof BSND can cause nonsyndromic deafness or Barttersyndrome. Am J Hum Genet. 2009; 85 (2): 273-280.

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

  25. Wolf A, Frohne A, Allen M, Parzefall T, KoenighoferM, Schreiner MM et al. A novel mutation in SLC26A4causes nonsyndromic autosomal recessive hearingimpairment. Otol Neurotol. 2017; 38 (2): 173-179.




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