Adermatoglyphia: Difference between revisions
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'''Adermatoglyphia''' is an extremely rare [[genetic disorder]] |
'''Adermatoglyphia''' is an extremely rare [[genetic disorder]] that causes a person to have no [[fingerprint]]s. There are only four known extended families worldwide that are affected by this condition. |
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In 2011, the description of a case of a person from [[Switzerland]] lacking fingerprints as an isolated finding was published.<ref>{{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 |url=http://linkinghub.elsevier.com/retrieve/pii/S0190-9622(09)01475-3}}</ref> The [[phenotype]] was mapped to [[chromosome 4]]q22. 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#Autosomal versus sex-linked dominance|autosomal dominant]] mode of inheritance.<ref>{{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 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(11)00298-9 |pmc=3155166|display-authors=etal}}</ref> |
In 2011, the description of a case of a person from [[Switzerland]] lacking fingerprints as an isolated finding was published.<ref>{{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 |url=http://linkinghub.elsevier.com/retrieve/pii/S0190-9622(09)01475-3}}</ref> The [[phenotype]] was mapped to [[chromosome 4]]q22. 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#Autosomal versus sex-linked dominance|autosomal dominant]] mode of inheritance.<ref>{{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 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(11)00298-9 |pmc=3155166|display-authors=etal}}</ref> |
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Revision as of 18:35, 11 July 2018
| 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 causes a person to have no fingerprints. There are only four known extended families worldwide that are affected by this condition.
In 2011, 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
- ^ 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.
- ^ 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.
- ^ Kaufman, Rachel (August 9, 2011). "Mutated DNA Causes No-Fingerprint Disease". National Geographic News.
Look up adermatoglyphia in Wiktionary, the free dictionary.
External links
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