NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.

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Tytuł:: NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Autorzy:: Billiet B; Département d'Ophtalmologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
Amati-Bonneau P; Unité MITOVASC, Équipe Mitolab, SFR ICAT, INSERM, CNRS, Université d'Angers, Angers, France.; Laboratoire de Biochimie et Biologie moléculaire, Centre Hospitalier Universitaire d'Angers, Angers, France.
Desquiret-Dumas V; Unité MITOVASC, Équipe Mitolab, SFR ICAT, INSERM, CNRS, Université d'Angers, Angers, France.; Laboratoire de Biochimie et Biologie moléculaire, Centre Hospitalier Universitaire d'Angers, Angers, France.
Guehlouz K; Département d'Ophtalmologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
Milea D; Singapore Eye Research Institute, Singapore National Eye Centre, Duke-NUS, Singapore.
Gohier P; Département d'Ophtalmologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
Lenaers G; Unité MITOVASC, Équipe Mitolab, SFR ICAT, INSERM, CNRS, Université d'Angers, Angers, France.
Mirebeau-Prunier D; Unité MITOVASC, Équipe Mitolab, SFR ICAT, INSERM, CNRS, Université d'Angers, Angers, France.; Laboratoire de Biochimie et Biologie moléculaire, Centre Hospitalier Universitaire d'Angers, Angers, France.
den Dunnen JT; Department of Human Genetics, Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Reynier P; Unité MITOVASC, Équipe Mitolab, SFR ICAT, INSERM, CNRS, Université d'Angers, Angers, France.; Laboratoire de Biochimie et Biologie moléculaire, Centre Hospitalier Universitaire d'Angers, Angers, France.
Ferré M; Unité MITOVASC, Équipe Mitolab, SFR ICAT, INSERM, CNRS, Université d'Angers, Angers, France.
Źródło:: Human mutation [Hum Mutat] 2022 Feb; Vol. 43 (2), pp. 128-142. Date of Electronic Publication: 2021 Dec 09.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Original Publication: New York : Wiley-Liss, c1992-
MeSH Terms:: COUP Transcription Factor I*/genetics
Databases, Genetic*
Intellectual Disability*/genetics
Optic Atrophies, Hereditary*/genetics
Optic Atrophy*/diagnosis
Optic Atrophy*/genetics
Humans ; Muscle Hypotonia/genetics
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Contributed Indexing:: Keywords: BBSOAS; Bosch-Boonstra-Schaaf optic atrophy syndrome; COUP transcription factor 1 protein; COUP-TF1; NR2F1; database; neurodegenerative disorders; nuclear receptor subfamily 2 group F member 1; ontology; optic atrophy
Substance Nomenclature:: 0 (COUP Transcription Factor I)
0 (NR2F1 protein, human)
Entry Date(s):: Date Created: 20211127 Date Completed: 20220429 Latest Revision: 20220531
Update Code:: 20240104
DOI:: 10.1002/humu.24305
PMID:: 34837429
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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.
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