Year: 2021
Type: preprint
Study design: Case Report
Abstract: 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.
Source: Molecular Case Studies
DOI: 10.1101/mcs.a006149
Authors: Kristen L. Buehne, Sarah Hart, Bradley Williams, Jennifer L. Cohen
Institutions: Duke University, Duke Medical Center
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4200199546