Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss

René Utrera, Vanessa Ridaura, Yuryanni Rodríguez, Maria J. Rojas, Leomig Mago, Simon I Angeli, Oswaldo Henríquez

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Severe to profound hearing impairment affects 1 of every 1000 newborn children each year. Inheritance accounts for 60% of these cases, of which 70% are nonsyndromic. The most common cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) is mutation in GJB2, a gene on chromosome 13, which encodes a gap junction protein named Connexin 26. Mutations in GJB2 are responsible for 40% of genetic childhood deafness. The most common mutation, 35delG, predominates in many ethnic groups. Some families with linkage to the DFNB1 locus have none or only one mutated allele in GJB2, however, some subjects can exhibit a large deletion in another connexin gene, GJB6, resulting in a monogenic or digenic pattern of inheritance in this complex DFNB1 locus that contains both genes (GJB2 and GJB6). The aim of the study was to determine (1) the frequency for the 35delG (27.5%), del(GJB6-D13S1830) (2.5%) and del(GJB6-D13S1854) (0.0%) mutations in a cohort of 40 Venezuelan patients with ARNSHL and (2) the carrier frequency 35delG (4%), del(GJB6-D13S1830) (0%) and del(GJB6-D13S1854) (0%) in the Venezuelan population with no familial history of hearing impairment. One patient (2.5%) was detected as double heterozygote for the deletion del(GJB6-D13S1830) and 35delG mutation. This result has direct clinical implications because we include the molecular detection of the deletion del(GJB6-D13S1830) during the evaluation of the diagnosis of deafness in the Venezuelan population.

Original languageEnglish
Pages (from-to)347-352
Number of pages6
JournalGenetic Testing
Volume11
Issue number4
DOIs
StatePublished - Dec 1 2007

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Mutation
Connexins
Deafness
Hearing Loss
Genes
Chromosomes, Human, Pair 13
Inheritance Patterns
Heterozygote
Ethnic Groups
Population
Alleles
Nonsyndromic Deafness
Newborn Infant

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss. / Utrera, René; Ridaura, Vanessa; Rodríguez, Yuryanni; Rojas, Maria J.; Mago, Leomig; Angeli, Simon I; Henríquez, Oswaldo.

In: Genetic Testing, Vol. 11, No. 4, 01.12.2007, p. 347-352.

Research output: Contribution to journalArticle

Utrera, René ; Ridaura, Vanessa ; Rodríguez, Yuryanni ; Rojas, Maria J. ; Mago, Leomig ; Angeli, Simon I ; Henríquez, Oswaldo. / Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss. In: Genetic Testing. 2007 ; Vol. 11, No. 4. pp. 347-352.
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abstract = "Severe to profound hearing impairment affects 1 of every 1000 newborn children each year. Inheritance accounts for 60{\%} of these cases, of which 70{\%} are nonsyndromic. The most common cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) is mutation in GJB2, a gene on chromosome 13, which encodes a gap junction protein named Connexin 26. Mutations in GJB2 are responsible for 40{\%} of genetic childhood deafness. The most common mutation, 35delG, predominates in many ethnic groups. Some families with linkage to the DFNB1 locus have none or only one mutated allele in GJB2, however, some subjects can exhibit a large deletion in another connexin gene, GJB6, resulting in a monogenic or digenic pattern of inheritance in this complex DFNB1 locus that contains both genes (GJB2 and GJB6). The aim of the study was to determine (1) the frequency for the 35delG (27.5{\%}), del(GJB6-D13S1830) (2.5{\%}) and del(GJB6-D13S1854) (0.0{\%}) mutations in a cohort of 40 Venezuelan patients with ARNSHL and (2) the carrier frequency 35delG (4{\%}), del(GJB6-D13S1830) (0{\%}) and del(GJB6-D13S1854) (0{\%}) in the Venezuelan population with no familial history of hearing impairment. One patient (2.5{\%}) was detected as double heterozygote for the deletion del(GJB6-D13S1830) and 35delG mutation. This result has direct clinical implications because we include the molecular detection of the deletion del(GJB6-D13S1830) during the evaluation of the diagnosis of deafness in the Venezuelan population.",
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