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Adermatoglyphia

Rare genetic disorder causing lack of fingerprints


Rare genetic disorder causing lack of fingerprints

FieldValue
synonymsImmigration delay disease
nameAdermatoglyphia
imageAutosomal dominant - en.svg
image_size140px
captionAdermatoglyphia 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.

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.

TOC

Case study

In 2007 an isolated finding was published regarding the description of a person from Switzerland who lacked fingerprints. 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. The heterozygous expression of the mutation suggests an autosomal dominant mode of inheritance. 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".

Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no side effects.

References

References

  1. Reference, Genetics Home. "Adermatoglyphia".
  2. "Adermatoglyphia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials".
  3. (2020-12-26). "The family with no fingerprints". BBC News.
  4. (May 2011). "The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges". J. Am. Acad. Dermatol..
  5. Stromberg, Joseph. "Adermatoglyphia: The Genetic Disorder Of People Born Without Fingerprints".
  6. (August 2011). "A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia". Am. J. Hum. Genet..
  7. [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
  8. Kaufman, Rachel. (August 9, 2011). "Mutated DNA Causes No-Fingerprint Disease". National Geographic News.
  9. [[Death in Paradise (TV series). Death in Paradise]]; Series 4, Episode 7 (Episode No. 31 overall)
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