Pathogenic variant c.35delG of the GJB2 gene associated with nonsyndromic prelingual deafness
DOI:
https://doi.org/10.56294/saludcyt2024766Keywords:
Connexin 26, Non-Syndromic, Deafness, Autosomal Recessive, Gab Β 2 Binding ProteinAbstract
Introduction: the pathogenic variant c.35delG of the GJB2 gene is the most frequently observed in all populations, associated with nonsyndromic autosomal recessive prelingual prelingual sensorineural deafness, since 2001 is available in the National Network of Medical Genetics the study of this mutation.
Objective: to describe the presence of the pathogenic variant c.35delG of the GJB2 gene associated with nonsyndromic prelingual deafness, with evidence of autosomal recessive inheritance.
Methods: a descriptive cross-sectional study was carried out on 379 cases registered with isolated prelingual hearing loss between 2001 and 2023; for the identification of the c.35delG mutation, the polymerase chain reaction technique was used, with enzymatic digestion, and its genotype and frequency were described.
Results: the pathogenic variant c.35delG of the GJB2 gene was found in 121 of those studied (31,91 %), 59 in homozygosis and 62 in heterozygosis. The allele frequency found among the positive cases was 0,743.
Conclusion: the pathogenic variant c.35delG in individuals with nonsyndromic prelingual deafness of possible autosomal recessive inheritance is found in a high proportion
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Copyright (c) 2024 Estela Morales Peralta , Mercedes Arceo Alvarez, Yuledmi Perdomo Chacón , Manuel Gómez Martínez, Teresa Collazo Mesa (Author)
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