Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome
Author:
Publisher
Medknow
Subject
Ophthalmology
Reference16 articles.
1. Starosta RT, Tarnowski J, Vairo F, Raymond K, Preston G, Morava E. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. Eur J Med Genet 2020;63:103941.
2. Bosch-Boonstra-Schaaf optic atrophy syndrome presenting as new-onset psychosis in a 32-year-old man: A case report and literature review;Hobbs;J Psychiatr Pract,2020
3. A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene;Gazdagh;Am J Med Genet Part A,2022
4. NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome;Billiet;Hum Mutat,2022
5. Novel NR2F1 variants likely disrupt DNA binding: Molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome;Kaiwar;Cold Spring Harb Mol Case Stud,2017
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