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)
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.
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.
- INCLUSION CRITERIA:
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
Cognitively impaired individuals.
Family members in families where only one person exhibits tune deafness.
Individuals currently using psychoactive medication.