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

• 影响指数: 1.274
• 发表时间: Jan-Feb 2018
• 来源期刊: Ophthalmic Genet
• DOI: 10.1080/13816810.2017.1381976
• PMID: 29053399
• 文章类型: Case Reports
• 中科院分区: Q4
• 方向: 生物
• 作者列表: Rodrigo MJ,Idoipe M,Izquierdo S,Satue M,Mateo A,Sanchez A,Garcia-Martin E,Pablo L

关键词: ALSG; FGF10; dry eye; lacrimal gland agenesis

Mesh: Dry Eye Syndromes / diagnosis; Eye Abnormalities / diagnostic imaging genetics; Female; Fibroblast Growth Factor 10 / genetics; Humans; Lacrimal Apparatus / abnormalities diagnostic imaging; Lacrimal Apparatus Diseases / diagnostic imaging genetics; Lacrimal Duct Obstruction / diagnosis; Magnetic Resonance Imaging; Pedigree; Salivary Gland Diseases / diagnostic imaging genetics; Salivary Glands / abnormalities diagnostic imaging; Xerostomia / diagnosis; Young Adult

Abstract

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.