DSP Gene

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Li, V. DSP Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4965 (accessed on 25 September 2026).

Li V. DSP Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4965. Accessed September 25, 2026.

Li, Vivi. "DSP Gene" Encyclopedia, https://encyclopedia.pub/entry/4965 (accessed September 25, 2026).

Li, V. (2020, December 24). DSP Gene. In Encyclopedia. https://encyclopedia.pub/entry/4965

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

DSP Gene

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

Desmoplakin: The DSP gene provides instructions for making a protein called desmoplakin.

genes

References

Bolling MC, Veenstra MJ, Jonkman MF, Diercks GF, Curry CJ, Fisher J, Pas HH,Bruckner AL. Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakinfunction in skin and heart. Br J Dermatol. 2010 Jun;162(6):1388-94. doi:10.1111/j.1365-2133.2010.09668.x.
Chalabreysse L, Senni F, Bruyère P, Aime B, Ollagnier C, Bozio A, Bouvagnet P.A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary todesmoplakin-dominant mutations. J Dent Res. 2011 Jan;90(1):58-64. doi:10.1177/0022034510383984.
Hobbs RP, Han SY, van der Zwaag PA, Bolling MC, Jongbloed JD, Jonkman MF,Getsios S, Paller AS, Green KJ. Insights from a desmoplakin mutation identifiedin lethal acantholytic epidermolysis bullosa. J Invest Dermatol. 2010Nov;130(11):2680-3. doi: 10.1038/jid.2010.189.
Jonkman MF, Pasmooij AM, Pasmans SG, van den Berg MP, Ter Horst HJ, Timmer A, Pas HH. Loss of desmoplakin tail causes lethal acantholytic epidermolysisbullosa. Am J Hum Genet. 2005 Oct;77(4):653-60.
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE,Whittock N, Leigh IM, Stevens HP, Kelsell DP. Recessive mutation in desmoplakindisrupts desmoplakin-intermediate filament interactions and causes dilatedcardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000 Nov1;9(18):2761-6.
Pigors M, Schwieger-Briel A, Cosgarea R, Diaconeasa A, Bruckner-Tuderman L,Fleck T, Has C. Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. Acta Derm Venereol. 2015 Mar;95(3):337-40. doi:10.2340/00015555-1974. Review.
Rasmussen TB, Hansen J, Nissen PH, Palmfeldt J, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Sørensen KE, Baandrup UT, Bross P,Mogensen J. Protein expression studies of desmoplakin mutations in cardiomyopathypatients reveal different molecular disease mechanisms. Clin Genet. 2013Jul;84(1):20-30. doi: 10.1111/cge.12056.
Yang Z, Bowles NE, Scherer SE, Taylor MD, Kearney DL, Ge S, Nadvoretskiy VV,DeFreitas G, Carabello B, Brandon LI, Godsel LM, Green KJ, Saffitz JE, Li H,Danieli GA, Calkins H, Marcus F, Towbin JA. Desmosomal dysfunction due tomutations in desmoplakin causes arrhythmogenic right ventriculardysplasia/cardiomyopathy. Circ Res. 2006 Sep 15;99(6):646-55.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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