What causes nonsyndromic hearing loss?

What causes nonsyndromic hearing loss?

The most common cause of moderate autosomal recessive nonsyndromic hearing loss is mutations in the STRC gene. These mutations cause a form of the condition known as DFNB16. Mutations in more than 60 other genes can also cause autosomal recessive nonsyndromic hearing loss.

What is non syndromic deafness?

Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of nonsyndromic deafness.

How is nonsyndromic hearing loss diagnosed?

Diagnosis/testing. Diagnosis of DFNB1 depends on molecular genetic testing to identify biallelic pathogenic variants in GJB2 (sequence variants as well as variants in upstream cis-regulatory elements that alter expression of the gap junction beta-2 protein [connexin 26]).

Which is a significant gene for Nonsyndromic deafness?

GJB2. In cases of non syndromic hearing loss, the most common mutation occurs in the Gap Junction Beta 2 gene (GJB2) which can account for up to 50% of autosomal recessive hearing loss and thus 20% of all congenital hearing loss. The GJB2 gene encodes connexin 26 which is a gap junction protein.

What is non-syndromic?

Nonsyndromic: Not part of a syndrome. Hearing loss, for instance, can be syndromic or nonsyndromic.

Is sensorineural hearing loss genetic?

Sensorineural hearing loss (SNHL) has many causes. For most children, the cause is not obviously known, and your ear specialist (pediatric otologist) will take a thorough medical history and perform a physical examination. Genetic factors account for hearing loss in over half of children with SNHL.

What is Pendred syndrome?

Pendred syndrome is a genetic disorder that causes early hearing loss in children. It also can affect the thyroid gland and sometimes creates problems with balance. The syndrome is named after Vaughan Pendred, the physician who first described people with the disorder.

Can sensorineural hearing loss be genetic?

Is there a cure for Nonsyndromic hearing loss?

Although numerous causative genes for genetic hearing loss have been identified, there are no truly curative treatments for this condition yet. At present, treatments for SNHL only include hearing aids and/or cochlear implants.

What is the best treatment for sensorineural hearing loss?

Sensorineural hearing loss is permanent; hair cells can’t be repaired once they’re damaged. For people with type of hearing loss, hearing aids are the gold standard treatment. In some cases, cochlear implants or bone-anchored hearing aids may be recommended.

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