adermatoglyphia
{{short description|Rare genetic disorder causing lack of fingerprints}}
{{Infobox medical condition (new)
| synonyms = Immigration delay disease
| name = Adermatoglyphia
| image = Autosomal dominant - en.svg
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| caption = Adermatoglyphia is inherited in an autosomal dominant manner
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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.{{Cite web|last=Reference|first=Genetics Home|title=Adermatoglyphia|url=https://ghr.nlm.nih.gov/condition/adermatoglyphia|access-date=2020-07-07|website=Genetics Home Reference|language=en}}{{Cite web|title=Adermatoglyphia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials|url=https://www.malacards.org/card/adermatoglyphia|access-date=2020-07-07|website=www.malacards.org}}
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.{{Cite news|date=2020-12-26|title=The family with no fingerprints|language=en-GB|work=BBC News|url=https://www.bbc.com/news/world-asia-55301200|access-date=2020-12-27}}
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Case study
In 2007 an isolated finding was published regarding the description of a person from Switzerland who lacked fingerprints.{{cite journal |vauthors=Burger B, Fuchs D, Sprecher E, Itin P |title=The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges |journal=J. Am. Acad. Dermatol. |volume=64 |issue=5 |pages=974–80 |date=May 2011|pmid=20619487 |doi=10.1016/j.jaad.2009.11.013 }} 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.{{Cite web|last=Stromberg|first=Joseph|title=Adermatoglyphia: The Genetic Disorder Of People Born Without Fingerprints|url=https://www.smithsonianmag.com/science-nature/adermatoglyphia-genetic-disorder-people-born-without-fingerprints-180949338/|access-date=2020-07-07|website=Smithsonian Magazine|language=en}} The heterozygous expression of the mutation suggests an autosomal dominant mode of inheritance.{{cite journal |vauthors=Nousbeck J, Burger B, Fuchs-Telem D |title=A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia |journal=Am. J. Hum. Genet. |volume=89 |issue=2 |pages=302–7 |date=August 2011|pmid=21820097 |doi=10.1016/j.ajhg.2011.07.004 |pmc=3155166|display-authors=etal}} 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".[https://www.bbc.com/news/world-asia-55301200 The family with no fingerprints], by Mir Sabbir; at BBC.com; published December 26, 2020; retrieved December 28, 2020
Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no side effects.{{cite news |author =Kaufman, Rachel |title=Mutated DNA Causes No-Fingerprint Disease |newspaper=National Geographic News |date=August 9, 2011 |url=http://news.nationalgeographic.com/news/2011/08/110809-fingerprints-skin-disease-health-science-weird/|archive-url=https://web.archive.org/web/20110926095209/http://news.nationalgeographic.com/news/2011/08/110809-fingerprints-skin-disease-health-science-weird|url-status=dead|archive-date=September 26, 2011}}
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.Death in Paradise; Series 4, Episode 7 (Episode No. 31 overall)
References
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External links
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| ICD10 = Q82.8
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| OMIM = 136000
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| Orphanet = 289465
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{{DNA replication and repair-deficiency disorder}}
Category:Autosomal dominant disorders