Hearing loss, complete or partial, sometimes manifests itself at birth or in early childhood, while in other cases it occurs later. The occurrence of hearing loss can be influenced by a variety of factors, including the characteristics of the human genome (genetic factors). A distinction is made between non-syndromic deafness where hearing loss is the only abnormal manifestation, and syndromic deafness ― in this case, in addition to hearing loss, a person has a number of other anomalies in various organs.
The Institute of Genetics and Cytology, NAS of Belarus, performs testing for the carriage of 2 mutations that may cause non-syndromic sensorineural hearing loss:
35delG ― GJB2 gene mutations causing congenital or early hearing loss;
A1555G ― mutations in the MT-RNR1 gene (mitochondrial small ribosomal subunit RNA gene) transmitted through the maternal line and associated with deafness that may occur after taking ototoxic antibiotics.
Hereditary hearing loss (sensorineural, non-syndromic type) occurs as a result of the transmission of a mutant (altered) copy of the GJB2 gene to a child from both parents. Mutations (35delG) in the GJB2 gene cause more than 50% of congenital or early hearing loss cases. It is believed that every eighth inhabitant of the Earth is a carrier of one of the genes causing recessive hearing loss. But 35delG mutation carriers have normal hearing, and only if two carriers marry each other, they can have deaf children. If there have been cases of deaf children being born in families and it has been established that a person with normal hearing is a mutation carrier in such a family, it is recommended that his/her future partner undergo genetic testing to exclude the birth of deaf children or to be prepared for their birth.
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