Hearing Loss & Genetics:

Understanding the Basics

Anna Frangulov, B.S. Research Coordinator
Childrens Hospital Boston

Why Hearing Loss is

So Common?

Structure of the Ear

Inside the Cochlea snail

Sound wave
Hair Cells
Nerve

Structure of the Ear

Conductive HL

Sensorineural HL

What Causes Hearing Loss?

Non-Genetic

Infections
Drug-Related
Traumas/
Exposures

Genetic

Structural
Unknown

How Genetic HL occurs?

Chromosomes in Nucleus

23 Pairs of Chromosomes

MOM

DAD

One Chromosome Pair

Genes
instruction manual

Genes

Chromosome Pair

Genes

Mutation
error

How Is Mutation Inherited?

Dominant ~15%
Recessive ~80%
X-Linked ~2%
Mitochondrial >2%

Dominant Inheritance
Mutation
error"

Carrier
Mutation
error"

How a Recessive Mutation is

Passed?

Carrier No Hearing Loss

Affected Child
Hearing Loss

Carrier No Hearing Loss

Recessive Inheritance

90% of all children w/HL

have normal hearing parents!

Dominant Inheritance

Recessive Inheritance

Parent w/o HL

Parent w/HL

Parent w/o HL

Child w/HL

If a parent has a dominant

mutation, EACH of their children
has a 50% chance of having
hearing loss

Child w/ HL

If two parents have a recessive

mutation, EACH of their children
has a 25% chance of having
hearing loss

HOW? WHO? WHY?

HOW
Do We Know If HL is Genetic?

WHO
Should Have a Genetic Test?
Everybody with Sensorineural HL

Also 2 Mutations in
Cx26!!

Case A: Syphilis
Case B: CMV
Case C: Prematurity
Case D: High bilirubin level

WHY
Should We Have a Genetic Test??
Benefits for Genetic Testing
a definite cause
family members realize that they are
carriers & determine risk factors for future
children
helps to find appropriate treatment/
management

Limitations for Genetic Testing

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
1. Talk to knowledgeable professional
Primary Care/ Pediatrician Clinical Geneticist
Genetic Counselor
ENT
Audiologist

Clinical Molecular Geneticist

Things to Consider
2. What tests are done?

3. Cost

Cx26
Cx30
Mitochondrial Tests
Pendred

UNDERSTANDING
TEST RESULTS
(example Cx26)

What Does the Result Mean?

Two Mutations are Found

~18%
Mutations w/Unknown

No Mutations are Found

~70%
One Mutation is Found

Significance

??

~1%

~10%

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

GeneChip Technology

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 and you
are willing to fill out a questionnaire

GeneChip Study - individuals with hearing loss who and

parents with normal hearing

Novel Gene Discovery Study - five or more family

members with hearing loss

Educational Material

http://hearing.harvard.edu

Now also in Spanish!

Helpful Information
Genetic Counselor - Rebecca Madore call 617-335-4534
to set an appointment or email rmadore@partners.org

Department of Clinical Genetics To make appointment

with Clinical Geneticist call 617-355-6394.

National Society of Genetic Counselors (NSGC)

www.nsgc.org

Research Study Participation & Booklets Orders:

Anna Frangulov
617-515-2962 or anna.frangulov@childrens.harvard.edu