| Title : Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report - Han_2022_Chin.Med.Sci.J_37_349 |
| Author(s) : Han L , Lijuan Q , Nan X , Li H , Li-Xing Q |
| Ref : Chin Med Sci J , 37 :349 , 2022 |
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Abstract :
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 omega-hydroxy fatty acid in ceramide, thus giving rise to omega-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. |
| PubMedSearch : Han_2022_Chin.Med.Sci.J_37_349 |
| PubMedID: 36647593 |
Han L, Lijuan Q, Nan X, Li H, Li-Xing Q (2022)
Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report
Chin Med Sci J
37 :349
Han L, Lijuan Q, Nan X, Li H, Li-Xing Q (2022)
Chin Med Sci J
37 :349