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NR2F1 database: 111 variants and 83 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome
  • +8
  • Benjamin Billiet,
  • Patrizia Amati-Bonneau,
  • Valérie Desquiret-Dumas,
  • Khadidja Guehlouz,
  • Dan Milea,
  • Philippe Gohier,
  • Guy Lenaers,
  • Delphine Mirebeau-Prunier,
  • Johan Den Dunnen,
  • Pascal Reynier,
  • Marc Ferré
Benjamin Billiet
Centre Hospitalier Universitaire d'Angers
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Patrizia Amati-Bonneau
Université d'Angers
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Valérie Desquiret-Dumas
Université d'Angers
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Khadidja Guehlouz
CHU Angers
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Dan Milea
Singapore National Eye Centre
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Philippe Gohier
Centre Hospitalier Universitaire d'Angers
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Guy Lenaers
Université d'Angers
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Delphine Mirebeau-Prunier
Université d'Angers
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Johan Den Dunnen
Leiden University Medical Center
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Pascal Reynier
Université d'Angers
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Marc Ferré
Université d'Angers
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Abstract

Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability, but with a clinical presentation which appears to be multifaceted. We created the first public locus-specific database (LSDB) dedicated to NR2F1. All variants and clinical cases reported in the literature, as well as new unpublished cases, were integrated into the database using standard nomenclature to describe both molecular and phenotypic anomalies. We subsequently pursued a comprehensive approach based on computed representation and analysis suggesting a refinement of the BBSOAS clinical description with respect to neurological features and the inclusion of musculoskeletal hypotonia and intestinal signs with feeding difficulties. This database is fully accessible for both clinician and molecular biologists and should prove useful in further refining the clinical synopsis of NR2F1 as new data is recorded.

Peer review status:IN REVISION

21 Jun 2021Submitted to Human Mutation
22 Jun 2021Assigned to Editor
22 Jun 2021Submission Checks Completed
29 Jun 2021Reviewer(s) Assigned
09 Jul 2021Review(s) Completed, Editorial Evaluation Pending
16 Jul 2021Editorial Decision: Revise Major