| 1 | DCWHK, DSP
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| Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).
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| Finsterer J, Stöllberger C, Wollmann E, Dertinger S, Laccone F.
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| Mol Genet Metab Rep 8:1-3. doi: 10.1016/j.ymgmr.2016.05.005. eCollection 2016 Sep.
2016
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| 2 | DCWHK, DSP
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| Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
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| Boyden LM, Kam CY, Hernández-Martín A, Zhou J, Craiglow BG, Sidbury R, Mathes EF, Maguiness SM, Crumrine DA, Williams ML, Hu R, Lifton RP, Elias PM, Green KJ, Choate KA.
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| Hum Mol Genet 25(2):348-57. doi: 10.1093/hmg/ddv481. Epub 2015 Nov 24.
2016
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| 3 | DCWHK, DSP
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| Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
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| Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B.
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| Clin Genet 80(1):50-8. doi: 10.1111/j.1399-0004.2010.01518.x. Epub 2010 Jul 22.
2011
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| 4 | DCWHK, DSP
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| Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
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| Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J.
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| Clin Res Cardiol 100(12):1087-93. Epub 2011 Jul 26.
2011
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| 5 | DSP, DCWHK
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| A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.
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| Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T.
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| J Am Coll Cardiol 42(2):319-27. 2003
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| 6 | DSP, DCWHK
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| Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
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| Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP.
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| Hum Mol Genet 9(18):2761-6. 2000
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