Vein dermatoglyphy

As adermatoglyphia is called a genetic disorder in which the person concerned as an isolated symptom on the palm side and the soles no ridges have and therefore no fingerprints behind. This disorder is very rare.

Disease emergence

The cause is likely to be a mutation in the so-called SMARCAD1 - gene on chromosome 4 , whose gene product is an enzyme , is involved in the skin formation. This enzyme is called SMARCAD helicase . The mutation found in an affected Swiss family in 2011 is a point mutation in which a purine base is exchanged for a pyrimidine base (a so-called transversion ). The point mutation leads to a shortening of the gene product and thus probably to a functionally restricted protein.

Mutations in helicases are also blamed for another disorder that is believed to be related to vein dermatoglyphics. This is a form of progeria , the Werner syndrome . Patients with vein dermatoglyphia have also been observed in the so-called ADULT syndrome .

Research history

In 2011, scientists in Basel described a case of an autosomal dominant inherited form of the disorder that had existed in a Swiss family for four generations . Previously, the literature only knew four cases of vein dermatoglyphia. A case of an Irish-American family was described about 30 years ago. The fault could be traced back five generations and was autosomal - dominant inherited.

Israeli scientists led by Eli Sprecher from the Tel Aviv Sourasky Medical Center examined the genetic makeup of the family from Switzerland and came to the conclusion in their study that the disorder is probably caused by a point mutation in a gene that is only active in skin formation. The gene sequences of healthy and vein dermatoglyphic family members were compared. A region on chromosome 4 gene locus q22 was identified that is associated with the disorder. A transversion in a splice site could be found in a non- coding 3 ' exon of the SMARCAD1 gene in the affected region . The point mutation leads to a shortening of the gene product. The corresponding shortened form of the SMARCAD helicase was detected in the skin of the test subjects.

See also

• Dermatopathia pigmentosa reticularis

literature

• I. Hübener: People without a fingerprint . In: Die Welt , August 10, 2011

Web links

• The secret of missing fingerprints. ORF.at, August 8, 2011; Retrieved August 29, 2013
• The woman without fingerprints. In: derStandard.at , with an illustration of fingers without papillary ridges; Retrieved August 15, 2011

Individual evidence

1. ↑ ^{a b} Janna Nousbeck, Bettina Burger, Dana Fuchs-Telem, Mor Pavlovsky, Shlomit Fenig, Ofer Sarig, Peter Itin, Eli Spokesman: A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia . In: The American Journal of Human Genetics . August 4, 2011, ISSN  0002-9297 ( cell.com [accessed August 11, 2011]).
2. ↑ HL de Almeida Jr, P. Caspary, RP Duquia, R. Meijer, M. van Steensel: Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. In: Am J Med Genet A , Oct 2010, 152A (10), pp. 2656-2657. PMID 20814947
3. ↑ B. Burger, D. Fuchs, E. Sprecher, P. Itin: The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. In: J Am Acad Dermatol. , May 2011, 64 (5), pp. 974-980. Epub 2010 Jul 8. PMID 20619487
4. ↑ People without fingerprints employ geneticists. Welt Online , accessed August 9, 2011.
5. ↑ T. Reed, RL Schreiner: Absence of dermal ridge patterns: genetic heterogeneity. In: Am J Med Genet. , September 1983, 16 (1), pp. 81-88. PMID 6638074