干旱区生态环境知识资源中心(Arid): Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

Arid

DOI	10.1038/s41431-019-0430-5
	Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder
	Cappuccio, Gerarda 1,2; Attanasio, Sergio 2; Alagia, Marianna 1; Mutarelli, Margherita 2; Borzone, Roberta 2; Karali, Marianthi 2,3; Genesio, Rita 4; Mormile, Angela 4; Nitsch, Lucio 4; Imperati, Floriana 1; Esposito, Annalisa 1; Banfi, Sandro 2,3; Del Giudice, Ennio 1; Brunetti-Pierri, Nicola 1,2
通讯作者	Brunetti-Pierri, Nicola
来源期刊	EUROPEAN JOURNAL OF HUMAN GENETICS
ISSN	1018-4813
EISSN	1476-5438
出版年	2019
卷号	27 期号:9 页码:1475-1480
英文摘要	We identified a 14q21.2 microdeletion in a 16-year-old boy with autism spectrum disorder (ASD), IQ in the lower part of normal range but high-functioning memory skills. The deletion affects a gene desert, and the non-deleted gene closest to the microdeletion boundaries is LRFN5, which encodes a protein involved in synaptic plasticity and implicated in neuropsychiatric disorders. LRFN5 expression was significantly decreased in the proband's skin fibroblasts. The deleted region includes the pseudogene chr14.232.a, which is transcribed into a long non-coding RNA (lncLRFN5-10), whose levels were also significantly reduced in the proband's fibroblasts compared to controls. Transfection of the patient's fibroblasts with a plasmid expressing chr14.232.a significantly increased LRFN5 expression, while siRNA targeting chr14.232.a-derived lncLRFN5-10 reduced LRFN5 levels. In summary, we report on an individual with ASD carrying a microdeletion encompassing the pseudogene chr14.232.a encoding for lncLRFN5-10, which was found to affect the expression levels of the nearby, non-deleted LRFN5. This case illustrates the potential role of long non-coding RNAs in regulating expression of neighbouring genes with a functional role in ASD pathogenesis.
类型	Article
语种	英语
国家	Italy
开放获取类型	Bronze, Green Published
收录类别	SCI-E ; SSCI
WOS记录号	WOS:000481576600018
WOS关键词	NERVOUS-SYSTEM DEVELOPMENT ; LONG NONCODING RNAS ; GENETIC ARCHITECTURE ; MECHANISMS
WOS类目	Biochemistry & Molecular Biology ; Genetics & Heredity
WOS研究方向	Biochemistry & Molecular Biology ; Genetics & Heredity
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/215584
作者单位	1.Univ Naples Federico II, Dept Translat Med, Sect Paediat, Naples, Italy; 2.Telethon Inst Genet & Med, Naples, Italy; 3.Univ Campania L Vanvitelli, Dept Precis Med, Caserta, CE, Italy; 4.Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Naples, Italy
推荐引用方式 GB/T 7714	Cappuccio, Gerarda,Attanasio, Sergio,Alagia, Marianna,et al. Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder[J],2019,27(9):1475-1480.
APA	Cappuccio, Gerarda.,Attanasio, Sergio.,Alagia, Marianna.,Mutarelli, Margherita.,Borzone, Roberta.,...&Brunetti-Pierri, Nicola.(2019).Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder.EUROPEAN JOURNAL OF HUMAN GENETICS,27(9),1475-1480.
MLA	Cappuccio, Gerarda,et al."Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder".EUROPEAN JOURNAL OF HUMAN GENETICS 27.9(2019):1475-1480.