Frame shift mutations in GJB2 causing hereditary non-syndromic he | 48546

Journal of Neurology & Neurophysiology

ISSN - 2155-9562

Frame shift mutations in GJB2 causing hereditary non-syndromic hearing impairment in two Sudanese patients

5th World Congress on Neurology and Therapeutics

March 14-16, 2016 London, UK

Yousuf H Y Bakhit

University of Khartoum, Sudan

Scientific Tracks Abstracts: J Neurol Neurophysiol

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.

Biography :

Yousuf Hasan Bakhit graduated in 2011 with Bachelor of dental surgery (BDS). He joined as teaching assistant at the department of basic medical sciences, faculty of dentistry university of Khartoum since March 2013, faculty of medicine, university of Khartoum. He is also the administrator of Sudanese Parkinson's Disease research project, one of the founders of Sudan Neuroscience Research Groups (SNRG), one of the two founders of Molecular dentistry lab, Faculty of dentistry, university of Khartoum. His current interest is neuronal dynamics and cognitive neurology