EDARADD Gene

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Li, V. EDARADD Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5258 (accessed on 22 September 2026).

Li V. EDARADD Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5258. Accessed September 22, 2026.

Li, Vivi. "EDARADD Gene" Encyclopedia, https://encyclopedia.pub/entry/5258 (accessed September 22, 2026).

Li, V. (2020, December 24). EDARADD Gene. In Encyclopedia. https://encyclopedia.pub/entry/5258

Li, Vivi. "EDARADD Gene." Encyclopedia. Web. 24 December, 2020.

EDARADD Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/edaradd

EDAR associated death domain: The EDARADD gene provides instructions for making a protein called the EDAR-associated death domain protein.

genes

References

Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D,Munnich A, Smahi A, Calvas P. Mutations in EDARADD account for a small proportionof hypohidrotic ectodermal dysplasia cases. Br J Dermatol. 2010May;162(5):1044-8. doi: 10.1111/j.1365-2133.2010.09670.x.
Chaudhary AK, Girisha KM, Bashyam MD. A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomalrecessive Hypohidrotic Ectodermal Dysplasia. Am J Med Genet A. 2016Jun;170(6):1639-41. doi: 10.1002/ajmg.a.37607.
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E,Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M,Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, BonnefontJP, Bodemer C, Smahi A. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) accountfor 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011Jan;32(1):70-2. doi: 10.1002/humu.21384.
Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA. Gene defect in ectodermal dysplasia implicates a death domainadapter in development. Nature. 2001 Dec 20-27;414(6866):913-6.
Wohlfart S, Hammersen J, Schneider H. Mutational spectrum in 101 patients withhypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. J Hum Genet. 2016 Oct;61(10):891-897. doi:10.1038/jhg.2016.75.
Wohlfart S, Söder S, Smahi A, Schneider H. A novel missense mutation in thegene EDARADD associated with an unusual phenotype of hypohidrotic ectodermaldysplasia. Am J Med Genet A. 2016 Jan;170A(1):249-53. doi: 10.1002/ajmg.a.37412.
Wright JT, Grange DK, Fete M. Hypohidrotic Ectodermal Dysplasia. 2003 Apr 28[updated 2017 Jun 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1112/

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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