Genetic Hearing Loss

Genetic Hearing Loss
By: Jing Shen M.D.
Ronald Deskin M.D.
UTMB Dept of Otolaryngology

Epidemiology
Methods
Syndromic deafness
Alport syndrome
Branchio-oto-renal syndrome
Jervell and Lange-Nielsen syndrome
Norrie syndrome
Pendred Syndrome
Treacher-collins syndrome
Usher syndrome
Waardenburg syndrome
Non-syndromic deafness
Ion homeostasis
GJB2 (Gap Junction Beta 2)
Transcription factors
Cytoskeleton proteins
Extracellular matrix components
Unknown function genes
Mitochondrial disorders
Evaluation
Genetic screening
Genetic counseling
Cochlear gene therapy
Resources for hereditary hearing loss

* Hereditary hearing loss home page http://www.uia.ac.be/dnalab/hhh
* Online Mendelian Inheritance in Man www.ncbi.nlm.nih.gov/Omim

Genetic Hearing Loss.ppt