New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study. (2nd January 2018)

• Record Type: Journal Article
• Authors: Rodrigo, Maria Jesus; Idoipe, Miriam; Izquierdo, Silvia; Satue, Maria; Mateo, Antonio; Sanchez, Antonio; Garcia-Martin, Elena; Pablo, Luis
• Is Part Of: Ophthalmic genetics. Volume 39:Number 1(2018)
• Page Start: 125
• Page End: 128
• Publication Date: 2018-01-02
• Subjects: ALSG -- dry eye -- FGF10 -- lacrimal gland agenesis; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2017.1381976
• Languages: English
• ISSNs: 1381-6810

Abstract

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.