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“One sees only what one knows”—Goethe
Higgins et al.1 are to be congratulated on the efficient and remarkably specific mapping of an autosomal recessive gene that, in a homozygous state, is responsible for mild to moderate and apparently nonsyndromal mental deficiency in a large and extensively consanguineous family of German origin. The authors were provided a large, seven-generation family who evidently kept excellent records (“a private genealogic database”; I suspect as a result of membership in a cultural/religious isolate), and used standard (one might even say “routine”) gene mapping methods to assign the locus for the particular form of mental deficiency segregating in this family to a 13.47-cM candidate internal in the immediate subtelomeric region on 3p (i.e., the short arm of HSA3, human chromosome 3).
The article by Higgins et al.1 concerns several issues not mentioned explicitly by these authors, but are worth recalling lest we continue in our rushed pursuit of our favorite genes, losing insights of a legacy that began not with the rediscovery of Mendel’s laws 100 years ago, but a century earlier with the articulation of the very science that Goethe (1796) and Burdach (1800) called morphology. This science gave rise to the form of genetics that is the science of the causal analysis of development, of individuals, and of species; a science also called “epigenetics” by Waddington 60 years ago.
Mental deficiency.
Considering that the brain is our largest and most complex organ, undergoing postnatal growth, differentiation, maturation, and functional integration as complexly as the events that shaped it prenatally, it is not surprising that a substantial number of our functioning genes, perhaps more than half of a total estimated between 60,000 to 160,000, is involved in brain structure and function. The evidence for the substantially genetic basis of the almost normally distributed functional …
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