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与2型Weill-Marchesani综合征相关的原纤蛋白-1基因变体p.Gly1754Ser：一例报告

Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report.

作者信息

Tamhankar Parag M, Menon Pramila, Mane Shailaja V, Muthu Kumar Aarthi

机构信息

Pediatrics, Dr. D.Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.

出版信息

Cureus. 2024 Sep 15;16(9):e69448. doi: 10.7759/cureus.69448. eCollection 2024 Sep.

DOI:10.7759/cureus.69448
PMID:39421111
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11484529/
Abstract

Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by severe short stature, small hands and feet, joint stiffness, eye abnormalities such as microspherophakia, ectopia of lenses, severe myopia, glaucoma, and heart defects. This case study describes a nine-year-old female child with WMS syndrome type 2 and heterozygous pathogenic variant p.Gly1754Ser in the fibrillin-1 gene, identified on whole exome sequencing. Two individuals with WMS with the p.Gly1754Ser variant have been previously reported in the medical literature. The present case is the fourteenth case of WMS type 2 with fibrillin-1 gene mutation in the medical literature, to the best of the author's knowledge.

摘要

魏尔-马歇桑尼综合征（WMS）是一种罕见的结缔组织疾病，其特征为严重身材矮小、手脚短小、关节僵硬、眼部异常，如小球形晶状体、晶状体异位、高度近视、青光眼以及心脏缺陷。本病例研究描述了一名9岁女性儿童，患有2型WMS综合征，在全外显子组测序中发现其原纤维蛋白-1基因存在杂合致病性变异p.Gly1754Ser。医学文献中此前已报道过两名携带p.Gly1754Ser变异的WMS患者。据作者所知，本病例是医学文献中第14例2型WMS伴原纤维蛋白-1基因突变的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9917/11484529/64115ebe8e5f/cureus-0016-00000069448-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9917/11484529/1b87fc4e5e2d/cureus-0016-00000069448-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9917/11484529/ec44efa660b5/cureus-0016-00000069448-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9917/11484529/5640441e0aab/cureus-0016-00000069448-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9917/11484529/64115ebe8e5f/cureus-0016-00000069448-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9917/11484529/1b87fc4e5e2d/cureus-0016-00000069448-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9917/11484529/ec44efa660b5/cureus-0016-00000069448-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9917/11484529/5640441e0aab/cureus-0016-00000069448-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9917/11484529/64115ebe8e5f/cureus-0016-00000069448-i04.jpg

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Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report.与2型Weill-Marchesani综合征相关的原纤蛋白-1基因变体p.Gly1754Ser：一例报告
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本文引用的文献

1
Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance.由低外显率的FBN1突变引起的类Weill-Marchesani综合征。
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Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature.魏尔-马切萨尼综合征，一种严重身材矮小的罕见表现及文献综述。
Am J Case Rep. 2021 May 31;22:e930824. doi: 10.12659/AJCR.930824.
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软骨-外胚层发育不良：38 例的自然病史、基因型-表型相关性及管理指南。
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Am J Med Genet A. 2017 Sep;173(9):2551-2556. doi: 10.1002/ajmg.a.38353. Epub 2017 Jul 11.
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Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.中国儿童肢端发育异常患者中FBN1基因的三种新突变
J Hum Genet. 2014 Oct;59(10):563-7. doi: 10.1038/jhg.2014.73. Epub 2014 Aug 21.
8
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.FBN1 外显子 41 和 42 的错义突变导致伴有胸主动脉疾病的马凡综合征和 Weill-Marchesani 综合征。
Am J Med Genet A. 2013 Sep;161A(9):2305-10. doi: 10.1002/ajmg.a.36044. Epub 2013 Jul 29.
9
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.一个患有由 FBN1 新型突变引起的弹性假黄瘤病的日本儿童。
Gene. 2013 Jan 10;512(2):456-9. doi: 10.1016/j.gene.2012.10.060. Epub 2012 Nov 2.
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Microenvironmental regulation by fibrillin-1.原纤维蛋白-1对微环境的调节作用。
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