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

Ophthalmic Genet. 2018 Jan-Feb;39(1):125-128. doi: 10.1080/13816810.2017.1381976. Epub 2017 Oct 20.

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.

Keywords: ALSG; FGF10; dry eye; lacrimal gland agenesis.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • FGF10 protein, human
  • Fibroblast Growth Factor 10

Supplementary concepts

  • Aplasia of Lacrimal and Salivary Glands