Adermatoglyphia

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Adermatoglyphia
Other namesImmigration delay disease
Autosomal dominant - en.svg
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[edit]

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]

References[edit]

  1. ^ Reference, Genetics Home. "Adermatoglyphia". Genetics Home Reference. Retrieved 2020-07-07.
  2. ^ "Adermatoglyphia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials". www.malacards.org. Retrieved 2020-07-07.
  3. ^ "The family with no fingerprints". BBC News. 2020-12-26. Retrieved 2020-12-27.
  4. ^ Burger B, Fuchs D, Sprecher E, Itin P (May 2011). "The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges". J. Am. Acad. Dermatol. 64 (5): 974–80. doi:10.1016/j.jaad.2009.11.013. PMID 20619487.
  5. ^ Stromberg, Joseph. "Adermatoglyphia: The Genetic Disorder Of People Born Without Fingerprints". Smithsonian Magazine. Retrieved 2020-07-07.
  6. ^ Nousbeck J, Burger B, Fuchs-Telem D, et al. (August 2011). "A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia". Am. J. Hum. Genet. 89 (2): 302–7. doi:10.1016/j.ajhg.2011.07.004. PMC 3155166. PMID 21820097.
  7. ^ The family with no fingerprints, by Mir Sabbir; at BBC.com; published December 26, 2020; retrieved December 28, 2020
  8. ^ Kaufman, Rachel (August 9, 2011). "Mutated DNA Causes No-Fingerprint Disease". National Geographic News.

External links[edit]

Classification
External resources