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Genetic Studies of Tone Deafness - Article


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Deafness & Hearing Loss


Clinical Trial: Genetic Studies of Tone Deafness

This study is currently recruiting patients.

Sponsored by: National Institute on Deafness and Other Communication Disorders (NIDCD)
Information provided by: Warren G Magnuson Clinical Center (CC)

Purpose

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.

Condition
Healthy
Tone Deafness

MedlinePlus related topics:  Aphasia;   Hearing Disorders and Deafness

Study Type: Observational
Study Design: Natural History

Official Title: Genetic Studies of Tune Deafness

Further Study Details: 

Expected Total Enrollment:  4000

Study start: July 26, 2000

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 additional listening tests to measure aspects of central auditory processing. 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.

Eligibility

Genders Eligible for Study:  Both

Accepts Healthy Volunteers

Criteria

INCLUSION CRITERIA:
Subject is 15 years old or older.
Subject or member of subject's family has a score of 21 or less on the Distorted Tunes Test.
Subject has score of 24 or less on the 5 minute Hearing Test.
Subject is not cognitively impaired, or using psychoactive medication.
EXCLUSION CRITERIA:
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.

Location and Contact Information


Maryland
      National Institute on Deafness and Other Communication Disorders (NIDCD), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting
Patient Recruitment and Public Liaison Office  1-800-411-1222    prpl@mail.cc.nih.gov 
TTY  1-866-411-1010 

More Information

Detailed Web Page

Publications

Profita J, Bidder TG. Perfect pitch. Am J Med Genet. 1988 Apr;29(4):763-71.

Wightman FL, Green DM. The perception of pitch. Am Sci. 1974 Mar-Apr;62(2):208-15. No abstract available.

Baharloo S, Johnston PA, Service SK, Gitschier J, Freimer NB. Absolute pitch: an approach for identification of genetic and nongenetic components. Am J Hum Genet. 1998 Feb;62(2):224-31.

Study ID Numbers:  000176; 00-DC-0176
Record last reviewed:  July 30, 2004
Last Updated:  November 23, 2004
Record first received:  July 28, 2000
ClinicalTrials.gov Identifier:  NCT00006076
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08


Source: ClinicalTrials.gov
Cache Date: April 9, 2005


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Page Updated: September 6, 2005
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