Yousuf H Y Bakhit
University of Khartoum, Sudan
Title: Frame shift mutations in GJB2 causing hereditary non-syndromic hearing impairment in two Sudanese patients
Biography
Biography: Yousuf H Y Bakhit
Abstract
Deafness is the most frequent sensory deficit in humans. The etiology is genetic in about half of the cases worldwide. The most frequent cause of non-syndromic autosomal recessive deafness is an altered connex in 26-protein, a communicating gap junction protein encoded by the gene GJB2. Previous studies included Sudanese and Kenyan patients suggested other causes for hearing impairment other than GJB2. Two Sudanese patients with a prelingual, profound, sensorineural, bilateral, non-syndromic hearing loss were screened for GJB2 using DNA extracted from blood which was followed by PCR and sequencing. The patients had different frame shift mutations that were unreported before
