Abstract
 Background
Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in SNHL.
Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss
 
  Keywords
 
 
  
   
    GJB2
   
   gene
  
 
 
  
   Hypoacusia
  
 
 
  
   Gene mutations
  
 
 
  
   Connexins
  
 
 
  
   Homozygous
  
 
Abstract
 Background
<dis>Sensorineural hearing loss</dis> (<dis>SNHL</dis>) is a clinically and genetically heterogeneous disease.
In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of <dis>hereditary SNHL</dis>.
The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in <dis>SNHL</dis>.
Objective
To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with <dis>SNHL</dis>.
Materials and methods
A Mexican family with <dis>SNHL</dis> was included in the study.
Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls.
Results
Affected sibs showed the homozygous c.del35G mutation in the _GJB2_ gene.
Parents of the families were heterozygous for the molecular defect and had normal audition.
Conclusion
We describe a homozygous c.del35G mutation in the _GJB2_ gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.
Abstract
 Background
Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease.
In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of hereditary SNHL.
The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in SNHL.
Objective
To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with SNHL.
Materials and methods
A Mexican family with SNHL was included in the study.
Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls.
Results
Affected sibs showed the homozygous c.del35G mutation in the _GJB2_ gene.
Parents of the families were heterozygous for the molecular defect and had normal audition.
Conclusion
We describe a homozygous c.del35G mutation in the _GJB2_ gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.
Abstract
 Background
<dis>Sensorineural hearing loss</dis> (<dis>SNHL</dis>) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of <dis>hereditary SNHL</dis>. The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in <dis>SNHL</dis>.
Sensorineural hearing loss
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SNHL
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hereditary SNHL
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SNHL
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