Hearing Loss amp; Genetics - Harvard Medical School Center for 听力损失amp；-哈佛医学院遗传学中心.pptVIP

What Is In Your Genes? Anna Frangulov, B.S. Research Coordinator Children’s Hospital Boston  Structure of the Ear Structure of the Ear How Genetic HL occurs? Chromosomes in Nucleus One Chromosome Pair Chromosome Pair How Is Mutation Passed On (Inherited)? Recessive ~80% Dominant ~15% X-Linked ~2% Mitochondrial 2% Dominant Inheritance Point #1 The risk rate is for every child Carrier How a Recessive Mutation is Passed? Recessive Inheritance Point #2 Most children with genetic cause of hearing loss are born to parents with normal hearing Sex Chromosomes X-Linked Inheritance Mitochondrial Inheritance HOW? WHO? WHY? HOW Do We Know if HL is Genetic? WHO Should Have a Genetic Test? Case A: Syphilis Case B: CMV Case C: Prematurity Case D: High bilirubin level Point #3 Even if you know your cause for hearing loss, you may also have an underlying genetic cause WHY Should We Have a Genetic Test?? Benefits a definite cause family members realize that they are carriers determine risk factors for future children helps to find appropriate treatment/ management does not necessarily find the answer severity of HL may not be predicted a person may have mutations, but not have HL Things to Consider Things to Consider 3. Cost UNDERSTANDING TEST RESULTS(example Cx26) What Does the Result Mean? One Mutation Found Mutation unrelated to deafness Test did not find 2nd mutation Dominant mutation There may be a mutation in another gene Future in Genetics and HL More Genetic Tests Things to Remember Most children with HL are born to parents with normal hearing The risks rates is for every child If you have other cause for hearing loss you may also have an underlying genetic cause A negative genetic test result = inconclusive Research Studies Connexin 26 Study- individuals with Cx26 mutations Genetic Testing and Counseling Study - If you or your child has had genetic testing for hearing loss a