Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report / 中国医学科学杂志(英文版)
Chinese Medical Sciences Journal
; (4): 349-352, 2022.
Article
em En
| WPRIM
| ID: wpr-970700
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WPRO
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 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.
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Texto completo:
1
Índice:
WPRIM
Assunto principal:
Fosfolipases
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Aciltransferases
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Ceramidas
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Ictiose Lamelar
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Colódio
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Lipase
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Mutação
Limite:
Humans
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Newborn
Idioma:
En
Revista:
Chinese Medical Sciences Journal
Ano de publicação:
2022
Tipo de documento:
Article