Medicine:Adermatoglyphia
| Adermatoglyphia | |
|---|---|
| Other names | Immigration delay disease |
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| Adermatoglyphia is inherited in an autosomal dominant manner | |
Adermatoglyphia is an extremely rare genetic disorder that prevents the development of fingerprints. Five extended families worldwide are known to be affected by this condition.[1][2]
The disorder was informally nicknamed "immigration delay disease" by Professor Peter Itin after his first patient had trouble traveling to the U.S. without any fingerprints for identification.[3]
Case study
In 2007 an isolated finding was published regarding the description of a person from Switzerland who lacked fingerprints.[4] The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected. It results in a shortened form of the skin-specific protein.[5] The heterozygous expression of the mutation suggests an autosomal dominant mode of inheritance.[6] The Swiss patient, and eight of her relatives who also had the mutation, all had "flat finger pads and a reduced number of sweat glands in the hands".[7]
Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no side effects.[8]
In Popular Culture
The medical condition and the 2007 Swiss medical case are both mentioned in the episode titled "She Was Murdered Twice" of the police drama television series Death in Paradise.[9]
References
- ↑ Reference, Genetics Home. "Adermatoglyphia" (in en). https://ghr.nlm.nih.gov/condition/adermatoglyphia.
- ↑ "Adermatoglyphia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials". https://www.malacards.org/card/adermatoglyphia.
- ↑ "The family with no fingerprints" (in en-GB). BBC News. 2020-12-26. https://www.bbc.com/news/world-asia-55301200.
- ↑ "The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges". J. Am. Acad. Dermatol. 64 (5): 974–80. May 2011. doi:10.1016/j.jaad.2009.11.013. PMID 20619487.
- ↑ Stromberg, Joseph. "Adermatoglyphia: The Genetic Disorder Of People Born Without Fingerprints" (in en). https://www.smithsonianmag.com/science-nature/adermatoglyphia-genetic-disorder-people-born-without-fingerprints-180949338/.
- ↑ "A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia". Am. J. Hum. Genet. 89 (2): 302–7. August 2011. doi:10.1016/j.ajhg.2011.07.004. PMID 21820097.
- ↑ The family with no fingerprints, by Mir Sabbir; at BBC.com; published December 26, 2020; retrieved December 28, 2020
- ↑ Kaufman, Rachel (August 9, 2011). "Mutated DNA Causes No-Fingerprint Disease". National Geographic News. http://news.nationalgeographic.com/news/2011/08/110809-fingerprints-skin-disease-health-science-weird/.
- ↑ Death in Paradise; Series 4, Episode 7 (Episode No. 31 overall)
External links
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