一例患有法伊弗综合征、FGFR 2突变（Trp290Cys）及独特眼前节表现患者的病例报告。

A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings.

作者信息

Barry Gerard P, Ny Betina Mucha-Le, Zackai Elaine H, Grunwald Lili, Forbes Brian J

机构信息

Department of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

出版信息

Ophthalmic Genet. 2010 Dec;31(4):193-5. doi: 10.3109/13816810.2010.505225. Epub 2010 Sep 1.

DOI:10.3109/13816810.2010.505225

PMID:20809772

Abstract

PURPOSE

To report a case of a child with Pfeiffer syndrome, unique ocular anterior segment findings and a mutation in FGFR2 (Trp290Cys).

METHODS

Case Report.

RESULTS

We describe a patient with Pfeiffer syndrome with a unique constellation of ocular anterior segment anomalies including microcornea, limbal scleralization, corectopia and glaucoma. Genomic DNA extraction was heterozygous for a G to T mutation at nucleotide 870 of the fibroblast growth factor receptor 2 gene (FGFR2) which changes tryptophan (TGG) to cysteine (TGT) at amino acid position 290 (Trp290Cys).

CONCLUSION

This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye.

摘要

目的

报告一例患有 Pfeiffer 综合征、独特的眼前节表现及成纤维细胞生长因子受体 2（FGFR2）基因（Trp290Cys）突变的儿童病例。

方法

病例报告。

结果

我们描述了一名患有 Pfeiffer 综合征的患者，其具有独特的眼前节异常组合，包括小角膜、角膜缘巩膜化、瞳孔异位和青光眼。基因组 DNA 提取显示，成纤维细胞生长因子受体 2 基因（FGFR2）第 870 位核苷酸处存在 G 到 T 的杂合突变，该突变导致第 290 位氨基酸处的色氨酸（TGG）变为半胱氨酸（TGT）（Trp290Cys）。