Scientists Unravel Mystery of People with No Fingerprints

September 13, 2006

Researchers at the Technion-Israel Institute of Technology have succeeded in unraveling the genetic basis of two rare congenital diseases in which afflicted persons have no fingerprints. The results will be published in the October 2006 issue of the American Journal of Human Genetics.

A team led by Professor Eli Sprecher of the Technion Faculty of Medicine found that both Naegeli syndrome and dermatopathia pigmentosa reticularis (DPR) are caused by a specific defect in the protein known as keratin 14.

The defect induces the body to mark cells in the upper layers of the skin for death. As a result, people with these afflictions lack fingerprints, as well as the ability to perspire normally. They also suffer from thickening of the palms and soles and may have developmental anomalies of the teeth, hair and skin.

Biological samples from Naegeli and DPR patients has been available for more than 20 years, but only recently did Technion graduate student Jennie Lugassy discover that the disease results from the abnormal function of keratin 14. Defects in this protein were known for years to be associated with a number of skin diseases with very different manifestations, so it had never been considered as a cause of Naegeli syndrome and DPR.

According to Sprecher, this new discovery was made possible by efforts initiated more than 20 years ago by former Professors Gabriele Richard (now with GeneDx, Inc. in Gaithersburg, Md.) and Peter Itin (University Hospital in Basel, Switzerland). The pair assembled an extraordinarily large group of individuals affected with these rare diseases; 25 individuals from five extended families from Switzerland, the United States and the United Kingdom participated in the study.

The researchers are now trying to understand the exact connection between the unusual features of the disease – such as the absence of fingerprints – and enhanced programmed cell death. According to Sprecher, the data from such research could have implications for many skin disorders.

Source: American Technion Society

Related Stories

Recommended for you

New clues to treat Alagille syndrome from zebrafish

October 18, 2017
A new study led by researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) identifies potential new therapeutic avenues for patients with Alagille syndrome. The discovery, published in Nature Communications, ...

Genetic variants associated with obsessive-compulsive disorder identified

October 18, 2017
(Medical Xpress)—An international team of researchers has found evidence of four genes that can be linked to obsessive-compulsive disorder (OCD). In their paper published in the journal Nature Communications, the group ...

An architect gene is involved in the assimilation of breast milk

October 17, 2017
A family of "architect" genes called Hox coordinates the formation of organs and limbs during embryonic life. Geneticists from the University of Geneva (UNIGE) and the Swiss Federal Institute of Technology in Lausanne (EPFL), ...

Study identifies genes responsible for diversity of human skin colors

October 12, 2017
Human populations feature a broad palette of skin tones. But until now, few genes have been shown to contribute to normal variation in skin color, and these had primarily been discovered through studies of European populations.

Genes critical for hearing identified

October 12, 2017
Fifty-two previously unidentified genes that are critical for hearing have been found by testing over 3,000 mouse genes. The newly discovered genes will provide insights into the causes of hearing loss in humans, say scientists ...

Team completes atlas of human DNA differences that influence gene expression

October 11, 2017
Researchers funded by the National Institutes of Health (NIH) have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which a person's genome gives rise to an observable ...

1 comment

Adjust slider to filter visible comments by rank

Display comments: newest first

kelly
not rated yet Oct 25, 2007
I don't have a fingerprint either! I never have and never will probably. I'm 16 and I've always wondered why, I find it something really unique about me...

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.