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NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome
Author(s) -
Billiet Benjamin,
AmatiBonneau Patrizia,
DesquiretDumas Valérie,
Guehlouz Khadidja,
Milea Dan,
Gohier Philippe,
Lenaers Guy,
MirebeauPrunier Delphine,
den Dunnen Johan T.,
Reynier Pascal,
Ferré Marc
Publication year - 2022
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.24305
Subject(s) - atrophy , biology , locus (genetics) , hypotonia , database , pathology , genetics , gene , medicine , computer science
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 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 All variants and clinical cases reported in the literature, as well as new unpublished cases, were integrated into the database using standard nomenclature to describe both molecular and phenotypic anomalies.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 additional signs of hypotonia and 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.