Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil.
Int J Pediatr Otorhinolaryngol
; 77(7): 1077-82, 2013 Jul.
Article
em En
| MEDLINE
| ID: mdl-23684175
ABSTRACT
OBJECTIVE:
There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology.METHODS:
The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), and A1555G in the mitochondrial gene MTRNR1 were initially analyzed, with additional mutations in GJB2 identified by sequencing the coding region of the gene.RESULTS:
Seven different mutations were present in GJB2 with mutations c.35delG and p.Arg75Gln, which are known to be pathogenic, identified in 37.0% of the subjects. Individuals homozygous for the c.35delG mutation were diagnosed in eight families, corresponding to 24.7% of unrelated individuals with nonsyndromic hearing impairment (NSHI), and an additional heterozygote for this mutation was present in a single family. Ten individuals (12.4%) in another family were heterozygous for the mutation p.Arg75Gln.CONCLUSIONS:
Significant heterogeneity was observed in the alleles and patterns of NSHI inheritance among the subjects studied, probably due to the extensive inter-ethnic admixture that characterizes the peoples of Brazil, together with a high prevalence of community endogamy and consanguineous marriage.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
População Rural
/
Etnicidade
/
Conexinas
/
Perda Auditiva
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Child
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Child, preschool
/
Female
/
Humans
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Male
/
Middle aged
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Int J Pediatr Otorhinolaryngol
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Brasil