Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features.

Journal Article (Journal Article)

Variants in the PAX6 gene have been associated with ophthalmologic, neurologic, and pancreatic differences. We report on a proband, mother, and affected brother who presented with congenital cataracts and glaucoma at a young age. Nonocular findings are also reported among these family members. After a congenital cataracts next-generation sequencing (NGS) gene panel was found to be nondiagnostic in 2016, a more expanded panel in 2020 revealed a novel variant: c.178T > A; p.Tyr60Asn in exon 6 of the PAX6 gene in the proband. The variant is also present in the affected mother and affected brother; it is absent in an unaffected brother. The clinical findings of these three relatives, in conjunction with their genetic testing and the associated PAX6 features reported in the literature, suggest that this novel familial variant may be an underlying etiology for these individuals' ophthalmologic, pancreatic, and olfactory symptoms.

Full Text

Duke Authors

Cited Authors

  • Buehne, KL; Hart, S; Williams, B; Cohen, JL

Published Date

  • January 2022

Published In

Volume / Issue

  • 8 / 1

PubMed ID

  • 34893493

Pubmed Central ID

  • PMC8744493

Electronic International Standard Serial Number (EISSN)

  • 2373-2873

Digital Object Identifier (DOI)

  • 10.1101/mcs.a006149


  • eng

Conference Location

  • United States