John Libbey Eurotext

European Journal of Dermatology

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A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5 Volume 28, issue 2, March-April 2018

Figures

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Authors
1 Department of Dermatology, Peking University Third Hospital, Beijing, China
2 Key Laboratory of Structural Biology, School of Chemical Biology & Biotechnology, Peking University Shenzhen Graduate School, Shenzhen, China
3 Department of Ophthalmology, Peking University Third Hospital, Beijing, China

Autosomal recessive congenital ichthyosis (ARCI) is a rare inheritable skin disorder characterized by abnormal desquamation over the whole body. Mutations in PNPLA1 are relatively rare in ARCI. In this study, we describe a consanguineous Chinese family with ARCI due to a novel missense mutation in PNPLA1, as well as Leber congenital amaurosis due to a novel nonsense mutation in the LCA5 gene.The proband(IV-2;figure 1A) was a 14-year-old boy and the offspring of consanguineous parents from first cousins. [...]