FGFR2基因中的一种新型杂合突变导致了 Pfeiffer 综合征。 - Suppr

A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.

作者信息

Machado Renato A, Ferreira Shirlene B, Martins Luciane, Ribeiro Mariana M, Martelli Daniella R B, Coletta Ricardo D, Aguiar Marcos J B, Martelli-Júnior Hercílio

机构信息

Department of Oral Diagnosis, Piracicaba Dental School, State University of Campinas, Piracicaba, São Paulo, Brazil.

Health Science Program, State University of Montes Claros, Unimontes, Minas Gerais State, Brazil.

出版信息

Am J Med Genet A. 2017 Oct;173(10):2838-2843. doi: 10.1002/ajmg.a.38389. Epub 2017 Aug 16.

DOI:10.1002/ajmg.a.38389

PMID:28815901

Abstract

摘要

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A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.FGFR2基因中的一种新型杂合突变导致了 Pfeiffer 综合征。

Am J Med Genet A. 2017 Oct;173(10):2838-2843. doi: 10.1002/ajmg.a.38389. Epub 2017 Aug 16.

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.对患有综合征性颅缝早闭症患者的突变筛查表明，有限数量的复发性FGFR2突变导致了严重形式的 Pfeiffer 综合征。

Eur J Hum Genet. 2006 Mar;14(3):289-98. doi: 10.1038/sj.ejhg.5201558.

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.一名无典型 Pfeiffer 综合征特征患者的 FGFR2 突变——二代测序与基于表型策略相结合的新作用

Eur J Med Genet. 2015 Aug;58(8):376-80. doi: 10.1016/j.ejmg.2015.05.007. Epub 2015 Jun 19.

Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.新型 FGFR2 突变 E731K 在颅缝早闭中的功能特征。

J Cell Biochem. 2012 Feb;113(2):457-64. doi: 10.1002/jcb.23368.

A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.一名患有 Pfeiffer 综合征并伴有骶部附属物的儿童的 FGFR2 基因突变。

Clin Dysmorphol. 2008 Jan;17(1):73-74. doi: 10.1097/MCD.0b013e3282efdaf1.

Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome.成纤维细胞生长因子受体2基因中的Ser351Cys突变导致严重的 Pfeiffer 综合征。

Clin Dysmorphol. 2006 Jul;15(3):187-188. doi: 10.1097/01.mcd.0000198930.32200.73.

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.一名患有塞特勒-乔岑综合征患者的新型TWIST1基因突变。

Clin Dysmorphol. 2017 Jul;26(3):175-178. doi: 10.1097/MCD.0000000000000162.

A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.在一个刚果家庭中，一种由三个连续核苷酸组成的新型杂合突变导致了阿佩尔综合征。

Eur J Med Genet. 2014 Mar;57(4):169-73. doi: 10.1016/j.ejmg.2014.01.004. Epub 2014 Jan 28.

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.伴有FGFR2 C342R突变的法伊弗综合征，表现为极度眼球突出、颅缝早闭、听力丧失、脑室扩大、大脚趾和拇指宽阔、上颌骨发育不全及喉软化。

Taiwan J Obstet Gynecol. 2017 Jun;56(3):412-414. doi: 10.1016/j.tjog.2017.04.030.

[FGFR2 gene mutation in a Chinese patient with Apert syndrome].[一名中国Apert综合征患者的FGFR2基因突变]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):682-4. doi: 10.3760/cma.j.issn.1003-9406.2010.06.018.

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Dosage-dependent effects of FGFR2 mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses.FGFR2突变对颅面形状和颅底软骨结合部细胞动力学的剂量依赖性影响。

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Genomic insights into the genetic basis of eagle-beak jaw, large head, and long tail in the big-headed turtle.平胸龟鹰嘴状颌、大头和长尾遗传基础的基因组学见解。

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Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report.FGFR2基因C.940-1G>C变异的费弗综合征患者的产前诊断：一例报告

Appl Clin Genet. 2020 Aug 11;13:147-150. doi: 10.2147/TACG.S251581. eCollection 2020.

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis.将 SureSelect 富集方案适配到 Ion Torrent S5 平台，用于颅缝早闭症的分子诊断。

Sci Rep. 2020 Mar 5;10(1):4159. doi: 10.1038/s41598-020-61048-5.

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A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.

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