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.
Artículo
en Inglés
| WPRIM
| ID: wpr-970700
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fosfolipasas
/
Aciltransferasas
/
Ceramidas
/
Ictiosis Lamelar
/
Colodión
/
Lipasa
/
Mutación
Límite:
Humanos
/
Recién Nacido
Idioma:
Inglés
Revista:
Chinese Medical Sciences Journal
Año:
2022
Tipo del documento:
Artículo
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