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Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.

作者信息

Altieri Filomena, Turco Elisa Maria, Vinci Ersilia, Torres Barbara, Ferrari Daniela, De Jaco Antonella, Mazzoccoli Gianluigi, Lamorte Giuseppe, Nardone Annamaria, Della Monica Matteo, Bernardini Laura, Vescovi Angelo Luigi, Rosati Jessica

机构信息

IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.

IRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.

出版信息

Stem Cell Res. 2018 Apr;28:153-156. doi: 10.1016/j.scr.2018.02.016. Epub 2018 Feb 21.

DOI:10.1016/j.scr.2018.02.016
PMID:29494847
Abstract

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene, 10% are due to heterozygous mutations affecting RAI1 coding region. Little is known about RAI1 role.

摘要

相似文献

1
Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.
Stem Cell Res. 2018 Apr;28:153-156. doi: 10.1016/j.scr.2018.02.016. Epub 2018 Feb 21.
2
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.对疑似 Smith-Magenis 综合征且无 17p11.2 缺失患者的视黄酸诱导基因 1（RAI1）进行分子分析。
PLoS One. 2011;6(8):e22861. doi: 10.1371/journal.pone.0022861. Epub 2011 Aug 8.
3
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.检测具有典型 Smith-Magenis 综合征特征的患者中的经典 17p11.2 缺失、非典型缺失和 RAI1 改变。
Eur J Hum Genet. 2012 Feb;20(2):148-54. doi: 10.1038/ejhg.2011.167. Epub 2011 Sep 7.
4
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.RAI1 转录因子活性在与 Smith-Magenis 综合征相关的突变体中受损。
PLoS One. 2012;7(9):e45155. doi: 10.1371/journal.pone.0045155. Epub 2012 Sep 18.
5
Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.史密斯-马根尼斯综合征：RAI1 基因杂合缺失导致神经和代谢途径中基因调控改变。
Expert Rev Mol Med. 2011 Apr 19;13:e14. doi: 10.1017/S1462399411001827.
6
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.史密斯-马根尼斯综合征导致时钟基因转录的中断，并揭示了 RAI1 在维持昼夜节律中的重要作用。
Am J Hum Genet. 2012 Jun 8;90(6):941-9. doi: 10.1016/j.ajhg.2012.04.013. Epub 2012 May 10.
7
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.Smith-Magenis 综合征：Rai1 突变患者中首例先天性心脏缺陷。
Am J Med Genet A. 2022 Jul;188(7):2184-2186. doi: 10.1002/ajmg.a.62740. Epub 2022 Apr 4.
8
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.教养所中的延迟诊断：由新发无义RAI1变异导致的史密斯-马吉尼斯综合征
Am J Med Genet A. 2016 Sep;170(9):2383-8. doi: 10.1002/ajmg.a.37602. Epub 2016 Jun 17.
9
Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS).德尔松综合征（SMS）缺失型和 RAI1 变异型的听力和交流状况存在重叠。
J Commun Disord. 2024 Sep-Oct;111:106455. doi: 10.1016/j.jcomdis.2024.106455. Epub 2024 Aug 11.
10
A de novo mutation (p.S1419F) of Retinoic acid induced 1 is responsible for a patient with Smith-Magenis syndrome exhibiting schizophrenia.一个新发生的突变（p.S1419F）导致视黄酸诱导 1 蛋白异常，与一名患有 Smith-Magenis 综合征并伴有精神分裂症的患者相关。
Gene. 2023 Jan 30;851:147028. doi: 10.1016/j.gene.2022.147028. Epub 2022 Nov 2.

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