[Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):616-619. doi: 10.3760/cma.j.issn.1003-9406.2019.06.022.
[Article in Chinese]

Abstract

Objective: To identify mutation of the PAX6 gene in a patient with congenital aniridia.

Methods: DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing.

Results: The proband was found to harbor a heterozygous c.239T>A (p.Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls.

Conclusion: A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.

Publication types

  • Case Reports

MeSH terms

  • Aniridia* / genetics
  • Base Sequence
  • Humans
  • Mutation
  • PAX6 Transcription Factor / genetics*
  • Pedigree

Substances

  • PAX6 Transcription Factor
  • PAX6 protein, human