典型文献
Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report
文献摘要：
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.
文献关键词：
中图分类号：
作者姓名：
Han Li;Lijuan Qian;Nan Xu;Li Huang;Lixing Qiao
作者机构：
Department of Pediatrics,Zhongda Hospital,Southeast University,Nanjing 210009,China;Teaching and Research Section of Pediatrics,Southeast University School of Medicine,Nanjing 210009,China
文献出处：
引用格式：
[1]Han Li;Lijuan Qian;Nan Xu;Li Huang;Lixing Qiao-.Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report)[J].中国医学科学杂志（英文版）,2022(04):349-352
A类：
PNPLA1,Autosomal,Recessive,Ichthyosis,ichthyosis,collodion,ectropion,eclabium,syndactyly,56C,Ser19X,Ala34Thr,transacylase,acylceramide
B类：
Novel,Pathogenic,Mutation,Identified,Congenital,Case,Report,recessive,congenital,ARCI,characterized,being,born,babies,hyperkeratosis,skin,scaling,We,described,baby,birth,mild,Whole,exome,sequencing,showed,compound,heterozygous,variant,100G,gene,NM,exon,protein,encoded,acts,unique,that,specifically,transfers,linoleic,acid,from,triglyceride,hydroxy,fatty,thus,giving,rise,particular,class,sphingolipids,essential,barrier,function,was,located,patatin,core,domain,resulted,truncated,which,could,disrupt,This,case,report,highlights,novel,mutation,identified,Chinese,child
AB值：
0.555186
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机标中图分类号，由域田数据科技根据网络公开资料自动分析生成，仅供学习研究参考。
