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References
Grall A, Guaguere E, Planchais S, et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet 2012; 44: 140–7.
Zimmer AD, Kim GJ, Hotz A, et al. 16 novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. Br J Dermatol 2017; 177: 445–55.
Boyden LM, Craiglow BG, Hu RH, et al. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. Br J Dermatol 2017; 177: 319–22.
Ohno Y, Kamiyama N, Nakamichi S, et al. PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide. Nat Commun 2017; 8: 14610.
Hirabayashi T, Anjo T, Kaneko A, et al. PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis. Nat Commun 2017; 8: 14609.
Kalinin AE, Kajava AV, Steinert PM. Epithelial barrier function: assembly and structural features of the cornified cell envelope. Bioessays 2002; 24: 789–800.
Elias PM, Schmuth M, Uchida Y, et al. Basis for the permeability barrier abnormality in lamellar ichthyosis. Exp Dermatol 2002; 11: 248–56.
Nithya S, Radhika T, Jeddy N. Loricrin -an overview. J Oral Maxillofac Pathol 2015; 19: 64–8.
den Hollander AI, Koenekoop RK, Mohamed MD, et al. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 2007; 39: 889–95.
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Zhao, HJ., Zeng, X., Lei, PC. et al. A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. Eur J Dermatol 28, 244–246 (2018). https://doi.org/10.1684/ejd.2018.3221
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DOI: https://doi.org/10.1684/ejd.2018.3221