Adermatoglyphia

Adermatoglyphia is an extremely rare genetic disorder that causes a person to have no fingerprints. There are only four(5)(currently in Manitoba Canada there is one family (all females not males) that do not have finger or toe prints) known extended families worldwide that are affected by this condition.

Adermatoglyphia
Other namesImmigration delay disease
Adermatoglyphia is inherited in an autosomal dominant manner

In 2007, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published.[1] 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 mode of mutation suggests an autosomal dominant mode of inheritance.[2]

Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no other side effects.[3] Mutations in helicases are involved in other rare genetic diseases, for instance Werner syndrome.

References

  1. 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.
  2. 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.
  3. Kaufman, Rachel (August 9, 2011). "Mutated DNA Causes No-Fingerprint Disease". National Geographic News.
Classification
External resources
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