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, 81 (3), 582-8

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


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

Isabelle Peretz et al. Am J Hum Genet.


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 ( lambda(s)=10.8; 95% confidence interval 8-13.5) enables the mapping of genetic loci for hereditary amusia.


Figure  1.
Figure 1.
Examples from the online auditory test of melody with no incongruity (A), with a time incongruity (B), and with a pitch incongruity (C). The arrow (↓) marks the mistuned pitch, and the flat (♭) marks the out-of-key pitch). Percentage of correct responses is presented below for the corresponding conditions (pitch 1 corresponds to the mistuned pitch and pitch 2 to the out-of-key pitch) in the amusic probands, their siblings, and their matched controls. The error bar represents SE.
Figure  2.
Figure 2.
Pedigrees of all tested families from the amusic probands (arrow heads). An asterisk (*) indicates evaluation by test. Black symbols indicate amusic individuals, as determined by test; white symbols indicate nonamusic individuals, as determined by test; and gray symbols indicate amusic individuals by report. Pedigrees shown in panels A and B involve the four amusic offspring.

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