Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant

Brianna Pandey; Newell Belnap; Chris Balak; Matt Huentelman; Keri Ramsey; Vinodh Narayanan; James Plotnik

doi:10.1016/j.jaapos.2021.07.006

Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant

J AAPOS. 2021 Dec;25(6):370-373. doi: 10.1016/j.jaapos.2021.07.006. Epub 2021 Oct 7.

Authors

Brianna Pandey¹, Newell Belnap², Chris Balak³, Matt Huentelman², Keri Ramsey², Vinodh Narayanan², James Plotnik⁴

Affiliations

¹ Creighton University School of Medicine, Omaha, Nebraska.
² Translational Genomics Research Institute, Neurogenomics Division, Center for Rare Childhood Disorders, Phoenix, Arizona.
³ Department of Cellular and Molecular Medicine, University of California San Diego, School of Medicine, La Jolla, California.
⁴ Department of Ophthalmology, Phoenix Children's Hospital, Phoenix, Arizona. Electronic address: [email protected].

PMID: 34628026
DOI: 10.1016/j.jaapos.2021.07.006

Abstract

Cerebellar-facial-dental syndrome (CFDS) is a newly described autosomal recessive genetic disorder characterized by mutations in the BRF1 gene. CFDS is clinically associated with dysmorphic facial features and cerebellar hypoplasia. We report visually significant progressive bilateral nuclear cataracts in a child with CFDS and identify a new causative genetic variant.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

Cataract* / genetics
Cerebellum / abnormalities
Cerebellum / diagnostic imaging
Child
Developmental Disabilities
Humans
Mutation
TATA-Binding Protein Associated Factors*

Substances

BRF1 protein, human
TATA-Binding Protein Associated Factors