Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant.
Journal
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
ISSN: 1528-3933
Titre abrégé: J AAPOS
Pays: United States
ID NLM: 9710011
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
received:
20
05
2021
revised:
14
07
2021
accepted:
18
07
2021
pubmed:
11
10
2021
medline:
18
3
2022
entrez:
10
10
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34628026
pii: S1091-8531(21)00544-9
doi: 10.1016/j.jaapos.2021.07.006
pii:
doi:
Substances chimiques
BRF1 protein, human
0
TATA-Binding Protein Associated Factors
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
370-373Informations de copyright
Copyright © 2021 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.