Study finds rare facial syndromes follow same genetic patterns as normal variation
A team led by Aponte and colleagues at multiple institutions analyzed facial shape across 66 genetic syndromes, then compared the patterns to common genetic variants in people without syndromes. Syndromic facial shape largely followed the same variance-covariance structure found in the general population. Unaffected relatives of syndromic probands even showed subtle facial resemblance to their affected relatives' syndromes. The researchers say this points to Mendelian disease variants acting on facial shape much like common variants do, with more severe cases tied to a higher cumulative burden of common variants along the same axes.
Rare disease-causing mutations appear to push facial features along the same axes as everyday genetic variation, rather than producing separate, distinct patterns.
Written by the Genomes desk from the primary source linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].