. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. E

Respuesta :

nonsyndromicMutation  in PDS gene are Known to be responsible for both pendered syndrome and non syndromic hearing loss.  

How does Pendered Syndrome affect hearing ?

Some children affect from Pendered Syndrome are totally .  Almost all children with Pendered Syndrome can be bilateral hearing loss , which means hearing loss in both ears .One ear can have more hearing loss than the other . The symptoms of this loss can be goitre , speech impairment , deafness and enlarged vestibular aqueduct .

PDS mutation analysis confirm that PDS mutations were present and responsible for 90% Pendered families ,some families with  nonsyndromic hearing loss with enlarged vestibular aqueduct .

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