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

Kristen L Buehne, Sarah Hart, Bradley Williams, Jennifer L Cohen

Cold Spring Harbor molecular case studies 2022 Jan

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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. © 2022 Buehne et al.; Published by Cold Spring Harbor Laboratory Press.

Citation

Kristen L Buehne, Sarah Hart, Bradley Williams, Jennifer L Cohen. Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features. Cold Spring Harbor molecular case studies. 2022 Jan;8(1)