New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study

被引：7

作者：

Jesus Rodrigo, Maria ^{[1
,2
]}

Idoipe, Miriam ^{[1
,2
]}

Izquierdo, Silvia ^{[3
]}

Satue, Maria ^{[1
,2
]}

Mateo, Antonio ^{[1
,2
]}

Sanchez, Antonio ^{[1
]}

Garcia-Martin, Elena ^{[1
,2
]}

Pablo, Luis ^{[1
,2
]}

机构：

[1] Univ Zaragoza, Miguel Servet Univ Hosp, Ophthalmol Dept, Miguel Servet Ophthalmol Innovat & Res Grp GIMSO, Zaragoza, Spain

[2] Aragon Inst Hlth Res IIS Aragon, Inst Hlth Sci Aragon, Zaragoza, Spain

[3] Miguel Servet Univ Hosp, Genet Biochem Dept, Zaragoza, Spain

来源：

OPHTHALMIC GENETICS | 2018年 / 39卷 / 01期

关键词：

ALSG; dry eye; FGF10; lacrimal gland agenesis;

D O I：

10.1080/13816810.2017.1381976

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Aplasia/agenesis of lacrimal and salivary glands is a rare congenital defect that has been associated with disturbances in fibroblast growth factor 10 (FGF10). It can present with symptoms of congenital lacrimal obstruction, dry eye, and dry mouth. We report the ophthalmological and genetic study of a 19-year-old woman and her relatives suffering from this syndrome. A new probably pathogenic variant is described in the FGF10 gene.

引用

页码：125 / 128

页数：4

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