Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population
Michiel Vanneste, Hanne Hoskens, Seppe Goovaerts, Harold Matthews, Jay Devine, Jose D Aponte, Joanne Cole, Mark Shriver, Mary L Marazita, Seth M Weinberg, Susan Walsh, Stephen Richmond, Ophir D Klein, Richard A Spritz, Hilde Peeters, Benedikt Hallgrímsson, Peter Claes · 2024
Read Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population by Michiel Vanneste, Hanne Hoskens, Seppe Goovaerts, Harold Matthews, Jay Devine, Jose D Aponte, Joanne Cole, Mark Shriver, Mary L Marazita, Seth M Weinberg, Susan Walsh, Stephen Richmond, Ophir D Klein, Richard A Spritz, Hilde Peeters, Benedikt Hallgrímsson, Peter Claes (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11612227.txt.
Description
Vanneste and colleagues published in twenty twenty-four a study linking facial shape in the general public to a known bone disorder. Achondroplasia is a genetic condition with a distinct facial pattern. The team reasoned that syndrome traits may mark the far end of normal variation. They compared three-dimensional face scans of forty-three people with the condition against thousands of controls. Each control face got a score for how achondroplasia-like it looked.
Genome scans of those scores found many small genetic effects, not one big one. The genes involved mostly guide skeletal development. Modeling them in two more samples, human and mouse, reproduced features of the syndrome face. The work suggests rare disorders and common traits share the same growth axes. That link may help explain how faces develop.
Catalog record
| CREATOR | Michiel Vanneste, Hanne Hoskens, Seppe Goovaerts, Harold Matthews, Jay Devine, Jose D Aponte, Joanne Cole, Mark Shriver, Mary L Marazita, Seth M Weinberg, Susan Walsh, Stephen Richmond, Ophir D Klein, Richard A Spritz, Hilde Peeters, Benedikt Hallgrímsson, Peter Claes |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 73 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |