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\begin{document}

\title{\emph{NR2F1} database: 111 variants and 83 patients support refining the
clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome}



\author[1]{Benjamin Billiet}%
\author[2]{Patrizia Amati-Bonneau}%
\author[2]{Valérie Desquiret-Dumas}%
\author[3]{Khadidja Guehlouz}%
\author[4]{Dan Milea}%
\author[1]{Philippe Gohier}%
\author[2]{Guy Lenaers}%
\author[2]{Delphine Mirebeau-Prunier}%
\author[5]{Johan Den Dunnen}%
\author[2]{Pascal Reynier}%
\author[2]{Marc Ferré}%
\affil[1]{Centre Hospitalier Universitaire d'Angers}%
\affil[2]{Université d'Angers}%
\affil[3]{CHU Angers}%
\affil[4]{Singapore National Eye Centre}%
\affil[5]{Leiden University Medical Center}%


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  \date{June 16, 2024}


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\begin{abstract}
Pathogenic variants of the nuclear receptor subfamily 2 group F member 1
gene (\emph{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 \emph{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the literature, as well as new unpublished cases, were integrated into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 \emph{NR2F1} as new data is recorded.%
\end{abstract}%



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