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一种致先天性常染色体隐性遗传鱼鳞病的
PNPLA1 新突变：1例病例报告- Affiliations：
1. 1Department of Pediatrics, Zhongda Hospital, Southeast University, Nanjing 210009, China
2. 2Teaching and Research Section of Pediatrics, Southeast University School of Medicine, Nanjing 210009, China
- Author bio：
* 86-25-83262760, E-mail: qiaolixing@yahoo.com.cn
- Funds：
DOI：10.24920/004009
中图分类号：收稿日期：2021-09-25，
录用日期：2022-2-18，
网络出版日期：2022-05-24，
纸质出版日期：2022-12-31
- Accepted：
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李函, 钱丽娟, 徐南, 等. 一种致先天性常染色体隐性遗传鱼鳞病的
PNPLA1 新突变：1例病例报告[J]. 中国医学科学杂志（英文版）, 2022,37(4):349-352.Han Li, Lijuan Qian, Nan Xu, et al. Novel Pathogenic Mutation of
PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report[J]. Chinese medical sciences journal, 2022, 37(4): 349-352.李函, 钱丽娟, 徐南, 等. 一种致先天性常染色体隐性遗传鱼鳞病的
PNPLA1 新突变：1例病例报告[J]. 中国医学科学杂志（英文版）, 2022,37(4):349-352. DOI： 10.24920/004009.Han Li, Lijuan Qian, Nan Xu, et al. Novel Pathogenic Mutation of
PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report[J]. Chinese medical sciences journal, 2022, 37(4): 349-352. DOI： 10.24920/004009.
摘要
先天性常染色体隐性遗传鱼鳞病是一种以出生时为胶棉婴儿、角化过度及皮肤鳞屑等为特点的疾病。我们报道了1例出生时表现为棉胶婴儿，伴有轻度睑外翻、唇外翻和并指的女患儿。全外显子测序显示患儿携带
PNPLA1
[NM_001145717；exon1]基因复合杂合突变：c.[56C
>
A]，p.(Ser19X) 和 c.[100G
>
A]，p.(Ala34Thr)。作为一种独特的酰基转移酶，PNPLA1蛋白负责将亚麻油酸从甘油三酯转移到神经酰胺中的ω-羟基脂肪酸，从而生成ω-O-酰基神经酰胺。ω-O-酰基神经酰胺是一种特殊鞘脂类，对保持皮肤屏障功能至关重要。患者携带的复合杂合突变位于
PNPLA1
基因的patatin核心区域，造成PNPLA1蛋白的截断，从而破坏酶活性，无法合成ω-O-酰基神经酰胺。本文报道的这一例中国儿童
PNPLA1
基因的复合杂合突变为新发突变。
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.
关键词
Keywords
references
Pigg MH , Bygum A , Ganemo A , et al . Spectrum of autosomal recessive congenital ichthyosis in Scandinavia: clinical characteristics and novel and recurrent mutations in 132 patients . Acta DermVenerol 2016 ; 96 ( 7 ): 932 - 7 . doi: 10.2340/00015555-2418 https://dx.doi.org/10.2340/00015555-2418 . DOI: 10.2340/00015555-2418 http://doi.org/10.2340/00015555-2418
Youssefian L , Vahidnezhad H , Saeidian AH , et al . Autosomal recessive congenital ichthyosis: genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families . Hum Mutat 2019 ; 40 ( 3 ): 288 - 98 . doi: 10.1002/humu.23695 https://dx.doi.org/10.1002/humu.23695 . DOI: 10.1002/humu.23695 http://doi.org/10.1002/humu.23695
Vahlquist A , Fischer J , Törmä H . Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment . Am J Clin Dermatol 2018 ; 19 ( 1 ): 51 - 66 . doi: 10.1007/s40257-017-0313-x https://dx.doi.org/10.1007/s40257-017-0313-x . DOI: 10.1007/s40257-017-0313-x http://doi.org/10.1007/s40257-017-0313-x
Zimmer AD , Kim GJ , Hotz A , et al . Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA 1 that is essential for proper human skin barrier function . Br J Dermatol 2017 ; 17 ( 2 ): 445 - 55 . doi: 10.1111/bjd.15308 https://dx.doi.org/10.1111/bjd.15308 . DOI: 10.1111/bjd.15308 http://doi.org/10.1111/bjd.15308
Vahidnezhad H , Youssefian L , Saeidian AH , et al . Gene-targeted next generation sequencing identifies PNPLA1 mutations in patients with a phenotypic spectrum of autosomal recessive congenital ichthyosis: the impact of consanguinity . J Invest Dermatol 2017 ; 137 ( 3 ): 678 - 85 . doi: 10.1016/j.jid.2016.11.012 https://dx.doi.org/10.1016/j.jid.2016.11.012 . DOI: S0022-202X(16)32653-7 http://doi.org/S0022-202X(16)32653-7
Ahmad F , Ansar M , Mehmood S , et al . A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families . J Eur Acad Dermatol Venereol 2016 ; 30 ( 12 ): e210 - 3 . doi: 10.1111/jdv.13540 https://dx.doi.org/10.1111/jdv.13540 . DOI: 10.1111/jdv.13540 http://doi.org/10.1111/jdv.13540 https://onlinelibrary.wiley.com/doi/10.1111/jdv.13540 https://onlinelibrary.wiley.com/doi/10.1111/jdv.13540
Boyden LM , Craiglow BG , Hu RH , et al . Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation . Br J Dermatol 2017 ; 177 ( 1 ): 319 - 22 . doi: 10.1111/bjd.15570 https://dx.doi.org/10.1111/bjd.15570 . DOI: 10.1111/bjd.15570 http://doi.org/10.1111/bjd.15570
Sitek JC , Kulseth MA , Rypdal KB , et al . Whole-exome sequencing for diagnosis of hereditary ichthyosis . J Eur Acad Dermatol Venereol 2018 ; 32 ( 6 ): 1022 - 7 . doi: 10.1111/jdv.14870 https://dx.doi.org/10.1111/jdv.14870 . DOI: 10.1111/jdv.14870 http://doi.org/10.1111/jdv.14870
Richards S , Aziz N , Bale S , et al . Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology . Genet Med 2015 ; 17 ( 5 ): 405 - 24 . doi: 10.1038/gim.2015.30 https://dx.doi.org/10.1038/gim.2015.30 . DOI: 10.1038/gim.2015.30 http://doi.org/10.1038/gim.2015.30
Pinkova B , Buckova H , Borska R , et al . Types of congenital nonsyndromic ichthyoses . Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2020 ; 164 ( 4 ): 1 - 9 . doi: 10.5507/bp.2020.050 https://dx.doi.org/10.5507/bp.2020.050 . DOI: 10.5507/bp.2020.050 http://doi.org/10.5507/bp.2020.050 http://biomed.papers.upol.cz/doi/10.5507/bp.2020.010.html http://biomed.papers.upol.cz/doi/10.5507/bp.2020.010.html
Li L , Liu W , Xu Y , et al . Targeted regions sequencing identified four novel PNPLA١ mutations in two Chinese families with autosomal recessive congenital ichthyosis . Mol Genet Genomic Med ; 8 ( 2 ): 1 - 7 . doi: 10.1002/mgg3.1076 https://dx.doi.org/10.1002/mgg3.1076 . DOI: 10.1002/mgg3.1076 http://doi.org/10.1002/mgg3.1076
Mohamad J , Samuelov L , Malchin N , et al . Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population . Exp Dermatol 2021 ; 30 ( 9 ): 1290 - 7 . doi: 10.1111/exd.14345 https://dx.doi.org/10.1111/exd.14345 . DOI: 10.1111/exd.14345 http://doi.org/10.1111/exd.14345
Tetsuya H , Makoto M , Akio K . The role of PNPLA1 in ω-O-acylceramide synthesis and skin barrier function . BBA-Mol Cell Biol L 2019 ;1864 ( 6 ): 869 - 79 . doi: 10.1016/j.bbalip.2018.09.010 https://dx.doi.org/10.1016/j.bbalip.2018.09.010 . DOI: 10.1016/j.bbalip.2018.09.010 http://doi.org/10.1016/j.bbalip.2018.09.010
Akiyama M . Acylceramide is a key player in skin barrier function: insight into the molecular mechanisms of skin barrier formation and ichthyosis pathogenesis . FEBS J 2021 ; 288 : 2119 - 30 . doi: 10.1111/febs.15497 https://dx.doi.org/10.1111/febs.15497 . DOI: 10.1111/febs.15497 http://doi.org/10.1111/febs.15497 https://onlinelibrary.wiley.com/toc/17424658/288/7 https://onlinelibrary.wiley.com/toc/17424658/288/7
Wang B , Gao WY , Liu B , et al . Expert Consensus Statement on Congenital Syndactyly . J Tissue Engineering Reconstructive Surg 2017 ; 13 : 303 - 9 . doi: 10.3969/j.issn.1673-0364.2017.06.001 https://dx.doi.org/10.3969/j.issn.1673-0364.2017.06.001 . DOI: 10.3969/j.issn.1673-0364.2017.06.001 http://doi.org/10.3969/j.issn.1673-0364.2017.06.001
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