Open Access<b>A novel pathogenic mutation of <i>PNPLA1 </i>identified in </b><b>an Autosomal recessive congenital ichthyosis case</b>
Author(s) -
Li Han,
Lijuan Qian,
Nan Xu,
Li Huang,
Lixing Qiao
Publication year - 2022
Publication title -
chinese medical sciences journal/chinese medical sciences journal
Language(s) - English
Resource type - Journals
ISSN - 1001-9294
DOI - 10.24920/004009
Subject(s) - congenital ichthyosis , ichthyosis , medicine , compound heterozygosity , exon , mutation , genetics , dermatology , gene , biology
Autosomal recessive congenital ichthyosis (ARCI) is characterized by being born as collodion babies, hyperkeratosis, and skin scaling. We described a collodion baby at birth with mild ectropion, eclabium, and syndactyly. Whole exome sequencing showed a compound heterozygous variant c.[56C>A], p.(Ser19X) and c.[100G>A], p.(Ala34Thr) in the PNPLA1 gene [NM_001145717; exon 1]. The protein encoded by PNPLA1 acts as a unique transacylase that specifically transfers linoleic acid from triglyceride to ω-hydroxy fatty acid in ceramide, thus giving rise to ω-O-acylceramide, a particular class of sphingolipids that is essential for skin barrier function. The variant was located in the patatin core domain of PNPLA1 and resulted in a truncated protein which could disrupt the function of the protein. This case report highlights a novel compound heterozygous mutation in PNPLA1 identified in a Chinese child.