On August 4th we found out the cause of Briggs hearing loss was due to Connexin 26. Below is a little information of what Connexin 26 is and how common it is. The GREAT news with Cx 26 is that there is no "syndrome" linked which means Briggs is a very healthy little boy who only has hearing loss!
Cause of Hearing Loss - Connexin 26
Advances in genetics have enabled scientists to identify genes that cause hearing loss. A substantial portion of people with nonsyndromic hearing loss have Connexin 26 disorder. This is a complex genetic disorder that leads to flawed copies of the gap junction beta 2 (GJB2) gene, which normally instructs a protein, Connexin 26 (CX26).
Everyone has two copies of this gene, but if each birth parent has a flawed copy of the GJB2/Connexin 26 gene, the baby may be born with a hearing loss. The hearing loss occurs because the mutation is suspected of disrupting potassium flow in the inner ear.
Who Has Connexin 26 Mutations?
Connexin 26 mutations occur primarily in Caucasians, Ashkenazi Jews, and some Asian people.
HEARING LOSS is extremely common and can present at any time from infancy to old age. About one in 1000 infants has profound hearing impairment, with half thought to be of genetic origin. Many deafness genes exist, but the most common cause of hearing loss in American and European populations is a mutation in the connexin 26 (Cx26) gene. Cx26 has a carrier rate of 3%, similar to that for cystic fibrosis, and it causes about 20% of childhood deafness. Mutations in Cx26 cause congenital syndromic and nonsyndromic deafness - that is, the deafness is not accompanied by other symptoms, such as blindness.
2 comments:
Great blog! I hope you'll consider adding it to the aggregator at Deaf Village (www.deafvillage.com) -- we'd love to have you as part of our community!
Landry's cx26 & 30 and we, too, feel so luck to know the cause of her deafness! Her surgery went perfectly on Monday, so please feel free to ask any questions that will help your journey!
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