The American Journal of Human Genetics, 2011; 89 (2): 302. DOI: 10.1016/j.ajhg.2011.07.004.
Janna Nousbeck, Bettina Burger, Dana Fuchs-Telem, Mor Pavlovsky, Shlomit Fenig, Ofer Sarig, Peter Itin and Eli Sprecher.
“A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia.”
Like DNA, fingerprints are unique to each person or set of identical twins. That makes them a valuable identification tool for everything from crime detection to international travel. But what happens when the tips of our fingers are missing those distinctive patterns of ridges?
It’s not the premise for a science fiction movie, but a real-life condition known as adermatoglyphia. It’s also known as “Immigration Delay Disease,” because affected individuals experience difficulty in passing through security or checkpoints where fingerprint identification is required. Now Prof. Eli Sprecher of Tel Aviv University‘s Sackler Faculty of Medicine and the Tel Aviv Sourasky Medical Center has identified the genetic mutation responsible for this unusual condition.
Though adermatoglyphia itself is extremely rare, defects that stem from any one genetic mutation give researchers unique insights into the most complex biological phenomena, such as the consequences of lacking a single protein.
The findings have been published in the American Journal of Human Genetics.
