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Deafness and DNA

Replies: 11

Re: Deafness

Posted: 15 Apr 2013 12:30PM GMT
Classification: Query
Edited: 15 Apr 2013 12:32PM GMT
Hello Dr. Turner,

Thanks for your response!

I believe we have Waardenburg Syndrome type II as the members of my family with the syndrome has sensorineural hearing loss, iris pigmentary abnormality and hair hypopigmentation but without dystopia canthorum.

I did some googling and found a list of SNPs that carry the MITF gene (that causes Waardenburg). I have one of the SNPs in my DNA: rs704246. Does this tell you anything?

I'm awaiting results from my grandparents' DNA testing which hopefully will tell me more.

Jason
SubjectAuthorDate Posted
Jason Gervase 15 Apr 2013 5:02PM GMT 
APTurner 15 Apr 2013 6:20PM GMT 
Jason Gervase 15 Apr 2013 6:30PM GMT 
APTurner 15 Apr 2013 9:30PM GMT 
Jason Gervase 16 Apr 2013 2:53PM GMT 
APTurner 16 Apr 2013 4:52PM GMT 
Jason Gervase 5 Jun 2013 8:52PM GMT 
APTurner 6 Jun 2013 3:16AM GMT 
Jason Gervase 10 Jun 2013 3:40AM GMT 
APTurner 12 Jun 2013 12:00AM GMT 
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