Preliminary report on screening IGSF3 gene mutation in families with congenital absence of lacrimal puncta and canaliculi
Author:
Corresponding Author:

Hai Tao. Lacrimal Center of Ophthalmology, the Third Medical Center of Chinese PLA General Hospital, Beijing 100039, China. taohaiwj@sina.com

Affiliation:

Clc Number:

Fund Project:

Supported by High-Level Talents Training Foundation of the Armed Police Force (No.GCCRC-02).

  • Article
  • |
  • Figures
  • |
  • Metrics
  • |
  • Reference
  • |
  • Related
  • |
  • Cited by
  • |
  • Materials
  • |
  • Comments
    Abstract:

    AIM: To investigate the variation of IGSF3 gene in three families with congenital absence of lacrimal puncta and canaliculi, and to lay a foundation for further research on the pathogenic gene of congenital lacrimal duct agenesis. METHODS: The members of the three families were recruited. The ophthalmologic examinations in details, including slit-lamp biomicroscope, intraocular pressure and fundus examination, etc. were carried out. All patients were checked with paracentesis of puncta membrane and lacrimal duct probing, as well as the computed tomography-dacryocystography (CT-DCG). Peripheral blood of 14 participants (3 normal) from three families were collected, 4 mL each, for genomic DNA extraction, and 11 exon fragments of IGSF3 gene were amplified and sequenced by polymerase chain reaction (PCR) to determine whether there were IGSF3 genetic variation. RESULTS: A total of 14 members from three families were screened for 4 synonymous variants: c.930C>T (p.Pro366=), c.1359T>C (p.Ser709=), c.1797G>A (p.Ser855=), c.1539G>A (p.Ser769=), and 6 missense variants: c.1507G>A (p.Gly759Ser), c.1783T>C (p.Trp851Arg), c.1952G>T (p.Ser 907Ile), c.3120C>G (p.Asp1040Glu), c.3123C>G (p.Asp1041Glu), c.3139_3140insGAC (p.Asp1046_Pro1047insAsp), and the latter three were only found in two patients with absence of lacrimal puncta and canaliculi combined with congenital osseous nasolacrimal canal obstruction from the first family. CONCLUSION: The same IGSF3 gene mutation c.3139_3140insGAC is found in the patients with congenital absence of lacrimal puncta and canaliculi combine with osseous nasolacrimal canal obstruction.

    Reference
    Related
    Cited by
Get Citation

Fei Wang, Hai Tao, Cui Han, et al. Preliminary report on screening IGSF3 gene mutation in families with congenital absence of lacrimal puncta and canaliculi. Int J Ophthalmol, 2020,13(9):1351-1355

Copy
Share
Article Metrics
  • Abstract:
  • PDF:
  • HTML:
  • Cited by:
Publication History
  • Received:April 26,2020
  • Revised:June 17,2020
  • Adopted:
  • Online: July 21,2020
  • Published: