The Genetics of Congenital Amusia (Tone Deafness): A Family-Aggregation Study

Congenital amusia (commonly known as “tone deafness”) is a lifelong impairment of music perception that affects 4% of the population. To estimate whether congenital amusia can be genetically transmitted, its prevalence was quantified by direct auditory testing of 71 members of 9 large families of amusic probands, as well as of 75 members of 10 control families. The results confirm that congenital amusia is expressed by a deficit in processing musical pitch but not musical time and also show that the pitch disorder has a hereditary component. In amusic families, 39% of first-degree relatives have the same cognitive disorder, whereas only 3% have it in the control families. The identification of multiplex families with a high relative risk of experiencing a musical pitch deficit (λs=10.8; 95% confidence interval 8–13.5) enables the mapping of genetic loci for hereditary amusia.