Adermatoglyphia

As Adermatoglyphie is called a genetic disorder in which the person concerned as an isolated symptom at hand insides and the soles have no ridges and thus left no fingerprints. This disorder is very rare.

Pathogenesis

The cause is likely to be a mutation in the so-called SMARCAD1 gene on chromosome 4, wherein said gene product is an enzyme that is involved in the formation of skin. This enzyme is referred to as SMARCAD helicase. The mutation was found in an affected family Swiss 2011 is a point mutation in which a purine base is replaced by a pyrimidine base (called a transversion ). The point mutation resulting in a reduction of the gene product, and thus likely to be a limited function in the protein.

Mutations in helicases are also blamed for another disorder that it is believed that they are related with the Adermatoglyphie. This is a form of progeria, Werner's syndrome. Even in the so-called ADULT syndrome patients were observed with a Adermatoglyphie.

History of Research

In 2011, one case of existing in a Swiss family for four generations autosomal dominant form of the disorder has been described by scientists in Basel. Previously, the literature had only four cases of Adermatoglyphie. A case of an Irish-American family has been described about 30 years ago. The fault could be traced over five generations and was inherited in an autosomal dominant manner.

Israeli scientists at Eli spokesman from Tel Aviv Sourasky Medical Center investigated the genetic material of the family from Switzerland and came in their study found that the disorder is probably caused by a point mutation in an active only during skin formation gene. There the gene sequences from healthy and affected by Adermatoglyphie family members were compared. Here, a region of chromosome 4 q22 locus was identified, which is associated with the disorder. In the affected region a transversion was found in a splice site in a non-coding 3 ' exon of the gene lying SMARCAD1. The point mutation resulting in a reduction of the gene product. The corresponding truncated form of SMARCAD helicase was detected in the skin of the subjects.