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Genetic Studies of Tone Deafness

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: July 28, 2000
Last updated: June 30, 2017
Last verified: June 29, 2010

This study will examine the hereditary basis of tone deafness by identifying regions of the human genome linked to this condition. Both exceptionally good pitch recognition (perfect pitch) and exceptionally poor pitch recognition (tone deafness) run in families. A better understanding of what causes tone deafness may provide new insights into auditory (hearing) function.

Individuals with two or more family members 15 years of age or older who are tone deaf or have trouble recognizing different melodies may be eligible for this study. Candidates will be screened with a short listening test for pitch and a short written test. Those identified with poor pitch recognition will fill out a brief questionnaire about their family tree and family members (without identifying names) who have trouble recognizing melodies or tones. Individuals with poor pitch recognition will be asked to help contact family members who may be interested in participating.

Members of families with two or more first-degree relatives (parents, grandparents, siblings) who are tone deaf may enroll in the study. They will provide a blood sample (about 2 tablespoons) for genetic studies and may take a 20-minute hearing test using headphones.

Healthy Tone Deafness

Study Type: Observational
Official Title: Genetic Studies of Tune Deafness

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Enrollment: 968
Study Start Date: July 26, 2000
Estimated Study Completion Date: June 29, 2010
Detailed Description:
The primary goal of this study is to identify regions of the genome which show genetic linkage to deficits in pitch recognition. Pitch recognition in subjects will be tested to identify individuals and families with poor pitch recognition, known as tune deafness, defined as the inability to recognize wrong notes in a popular melody. We will undertake a 2-stage process, first a screening to identify probands, and secondly a full family ascertainment and enrollment. Probands and family members will be given an auditory and verbal attention test, and additions listening tests to measure aspects of center auditory processing and attention. Family phenotypic data will be used for additional epidemiological studies of tune deafness. Affected and unaffected members of families containing multiple tune deaf individuals will have 20 cc of blood drawn to obtain DNA. These DNA samples will then be genotyped using markers distributed across the human genome, and the genotypic information analyzed to determine which markers show linkage to tune deafness. Genetic linkage is the initial step in the process of positional cloning, and cloning the defective genes which underlie tune deafness is a long term goal of this research.

Ages Eligible for Study:   15 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Individuals over the age of 15.

This study includes both males and females, and includes members of all racial and ethnic groups. This study includes both normal and tune deaf individuals, as well as individuals that may have intermediate scores on the Distorted Tunes Test, indicating a status between completely tune deaf and normal.


Hearing impaired individuals, as first estimated by a score of 25 or greater on the American Academy of Otolaryngology's 5 Minute Hearing Test, or subsequently by audiological exam.

Cognitively impaired individuals.

Family members in families where only one person exhibits tune deafness.

Individuals currently using psychoactive medication.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00006076

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute on Deafness and Other Communication Disorders (NIDCD)
  More Information

Publications: Identifier: NCT00006076     History of Changes
Other Study ID Numbers: 000176
Study First Received: July 28, 2000
Last Updated: June 30, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Auditory Processing
Pitch Recognition
Tone Deafness
Tune Deafness
Congenital Amusia
Healthy Volunteer

Additional relevant MeSH terms:
Hearing Loss
Auditory Perceptual Disorders
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Auditory Diseases, Central
Retrocochlear Diseases
Brain Diseases
Central Nervous System Diseases
Perceptual Disorders
Neurobehavioral Manifestations
Cognition Disorders
Neurocognitive Disorders
Mental Disorders processed this record on September 21, 2017