Genetic Feature of Congenital Hearing Loss in Chinese Population

Exome Sequencing Explored the Genetic Characteristics Congenital Hearing Loss in Chinese Population

Congenital hearing loss, as well as hearing loss present at birth, is one of the most common chronic conditions in children, with a prevalence of permanent bilateral hearing loss of 2.83 per 1000 children of primary school age, which is mainly caused by genetic factors. The goal of this observational study is to learn about novel causative genes in infants with hearing loss in the Chinese population. The main problem it aims to deal with are:

• to present the genetic characteristics of the infant with hearing loss in the Chinese population
• to build up a prognostic model base on diverse data.

Participants will be asked to receive audiological tests and collection of the peripheral blood sample.

Inclusion Criteria:

• Age up to 6 months
• Fail in the neonatal hearing screening programs, including oto-acoustic emissions and automated auditory brain stem response
• Promise to complete the tests required at baseline and follow-ups by the legal representative
• Informed consent by the legal representative

Exclusion Criteria:

• Congenital infections related to acquired or congenital hearing loss, including rubella virus, cytomegalovirus, herpes simplex virus, rubella virus, toxoplasma gondii and treponema pallidum infections
• Other explicit otologic conditions which could induce hearing loss, including cerumen, otitis media, congenital middle ear abnormalities, microtia and external ear abnormalities
• A drug with ototoxicity usage during pregnancy
• Other severe congenital anomalies