Background: Approximately 1 out of 1000 children is affected by severe or profound hearing impairment at birth. In the last years it has been shown that more than 50 % of inherited prelingual, sensorineural hearing impairment may be attributed to genetic defects. Most commonly, the GJB2 gene (chromosome 13q11) that encodes connexin 26 (Cx26) is affected. Cx26 is crucial for the formation of gap junctions which play an important role in the intercellular exchange of electrolytes. A variety of autosomal recessive GJB2 mutations associated with inherited hearing impairment has meanwhile been identified. The most common GJB2 mutation in Caucasian populations, 35delG accounts for the majority of cases and has a carrier frequency of more than 2.5 %. Other distinct mutations account for hearing impairment in other parts of the world.
Material and methods: We examined in 59 Caucasian and Ghanaian individuals whether DNA recovered from buccal smears was appropriate for genetic testing by polymerase-chain reaction (PCR) based DNA-sequencing.
Results: Buccal smears could be taken conveniently in all cases, even from small babies. In 53 out of 59 samples the material recovered from buccal smears could be subjected to PCR of the second exon of the GJB2 gene and subsequent DNA-sequencing. GJB2 mutations were identified in 34 patients. 13 Caucasian individuals exhibited the most common mutation 35delG. In addition, four cases of the rare W24X and each one heterozygous case of the V153I- and the L90P mutation were found. In two African individuals the 35insG mutation was detected. All other African patients had mutations exclusively identified in Ghana so far with the exception of R143W. R143W accounts for most cases of profound deafness in Ghana and has been identified in low frequencies in other ethnic groups as well.
Conclusion: Screening for GJB2 mutations in DNA recovered from buccal smears of individuals with inherited hearing impairment offers an easy, non-invasive method for early diagnosis and a basis of genetic counselling.