Sign up to save your podcasts
Or
Share Introducing the NR2F1 Foundation
Share to email
Share to Facebook
Share to X
Share to email
Share to Facebook
Share to X
Or
Introducing the NR2F1 Foundation
NR2F1 Foundation's mission is to support those impacted by an NR2F1 mutation, aka Bosch-Boonstra-Schaaf optic atrophy syndrome through education, advocacy, and research.
BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, is a rare neurological disorder caused by a disruption in the NR2F1 gene. BBSOAS is characterized by a wide array of clinical features, but the most common are vision impairment caused by optic atrophy, developmental delay, and intellectual disability. There are currently a few hundred known cases of BBSOAS worldwide with diagnoses rapidly increasing every month.
The phenotypic spectrum of Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is broad and variable, but the most well-established characteristics include developmental delay/intellectual disability and visual impairment (including optic nerve atrophy, optic nerve hypoplasia, and cortical visual impairment). Other common features include hypotonia, oromotor dysfunction, and mild and inconsistent dysmorphic facial features. Morphological changes in brain structures including thinning of the corpus callosum, and autism spectrum disorder are also considered common. Individuals are at an elevated risk of seizures, including infantile spasms.
Genotype-phenotype correlations have been proposed, with individuals with mutations in the DBD typically showing a more severe phenotype, and individuals with whole-gene deletions and truncating mutations tending to have moderate to mild symptoms. Individuals with point mutations outside of the DBD most often manifest the mildest phenotype.
BBSOAS is considered a static encephalopathy and has not been shown to be progressive/degenerative. There is no progression of the eye phenotype known, including no known progression of optic atrophy.
Connect to learn more:
Email: [email protected]
Website: https://nr2f1.org/
FB: @NR2F1 Foundation
IG: @nr2f1foundation
Transcript: https://docs.google.com/document/d/1tiJV3qJmtUPPokZvdbIdlBEF7pgbXEyi/edit?usp=sharing&ouid=117716030289987185197&rtpof=true&sd=true
As an Amazon Associate, I earn commissions from qualifying purchases.
For more information about True North Disability Planning you can find us here:
Web: https://truenorthdisabilityplanning.com/
Waypoints - https://waypoints.substack.com/
Facebook: @TrueNorthDisabilityPlanning
X (Twitter): @NeedsNavigator
View all episodes
By ABCs of Disability Planning
5
99 ratings
NR2F1 Foundation's mission is to support those impacted by an NR2F1 mutation, aka Bosch-Boonstra-Schaaf optic atrophy syndrome through education, advocacy, and research.
BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, is a rare neurological disorder caused by a disruption in the NR2F1 gene. BBSOAS is characterized by a wide array of clinical features, but the most common are vision impairment caused by optic atrophy, developmental delay, and intellectual disability. There are currently a few hundred known cases of BBSOAS worldwide with diagnoses rapidly increasing every month.
The phenotypic spectrum of Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is broad and variable, but the most well-established characteristics include developmental delay/intellectual disability and visual impairment (including optic nerve atrophy, optic nerve hypoplasia, and cortical visual impairment). Other common features include hypotonia, oromotor dysfunction, and mild and inconsistent dysmorphic facial features. Morphological changes in brain structures including thinning of the corpus callosum, and autism spectrum disorder are also considered common. Individuals are at an elevated risk of seizures, including infantile spasms.
Genotype-phenotype correlations have been proposed, with individuals with mutations in the DBD typically showing a more severe phenotype, and individuals with whole-gene deletions and truncating mutations tending to have moderate to mild symptoms. Individuals with point mutations outside of the DBD most often manifest the mildest phenotype.
BBSOAS is considered a static encephalopathy and has not been shown to be progressive/degenerative. There is no progression of the eye phenotype known, including no known progression of optic atrophy.
Connect to learn more:
Email: [email protected]
Website: https://nr2f1.org/
FB: @NR2F1 Foundation
IG: @nr2f1foundation
Transcript: https://docs.google.com/document/d/1tiJV3qJmtUPPokZvdbIdlBEF7pgbXEyi/edit?usp=sharing&ouid=117716030289987185197&rtpof=true&sd=true
As an Amazon Associate, I earn commissions from qualifying purchases.
For more information about True North Disability Planning you can find us here:
Web: https://truenorthdisabilityplanning.com/
Waypoints - https://waypoints.substack.com/
Facebook: @TrueNorthDisabilityPlanning
X (Twitter): @NeedsNavigator