BBSOAS
MCID: BSC005
MIFTS: 41

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

MalaCards integrated aliases for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

Name: Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 57 12 58 72 29 6 39 70
Bbsoas 57 12 58 72
Optic Atrophy-Intellectual Disability Syndrome 12 58
Optic Atrophy, Autosomal Dominant 44

Characteristics:

Orphanet epidemiological data:

58
optic atrophy-intellectual disability syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
bosch-boonstra-schaaf optic atrophy syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

OMIM® : 57 Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disorder characterized by delayed development, moderately impaired intellectual development, and optic atrophy. Most patients also have evidence of cerebral visual impairment. Dysmorphic facial features are variable and nonspecific (summary by Bosch et al., 2014). (615722) (Updated 20-May-2021)

MalaCards based summary : Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, also known as bbsoas, is related to optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy and optic atrophy 1. An important gene associated with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome is NR2F1 (Nuclear Receptor Subfamily 2 Group F Member 1), and among its related pathways/superpathways are Nuclear Receptor transcription pathway and Oct4 in Mammalian ESC Pluripotency. Affiliated tissues include eye, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has material basis in heterozygous mutation in NR2F1 on chromosome 5q15.

UniProtKB/Swiss-Prot : 72 Bosch-Boonstra-Schaaf optic atrophy syndrome: An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment.

Wikipedia : 73 Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by... more...

Related Diseases for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Graphical network of the top 20 diseases related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:



Diseases related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Symptoms & Phenotypes for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Human phenotypes related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
4 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
5 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
6 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
7 seizure 31 frequent (33%) HP:0001250
8 hypotonia 31 frequent (33%) HP:0001252
9 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
10 abnormality of the helix 58 31 occasional (7.5%) Occasional (29-5%) HP:0011039
11 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
12 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
13 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
14 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
15 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
16 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
17 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
18 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
19 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
20 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
21 visual field defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001123
22 optic disc hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007766
23 optic nerve hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000609
24 cerebral visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100704
25 esotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000565
26 exotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000577
27 repetitive compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0008762
28 short nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0003194
29 spasticity 58 31 very rare (1%) Very rare (<4-1%) HP:0001257
30 nystagmus 58 31 very rare (1%) Very rare (<4-1%) HP:0000639
31 delayed skeletal maturation 58 31 very rare (1%) Very rare (<4-1%) HP:0002750
32 short stature 58 31 very rare (1%) Very rare (<4-1%) HP:0004322
33 myopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000545
34 keratoconus 58 31 very rare (1%) Very rare (<4-1%) HP:0000563
35 hypermetropia 58 31 very rare (1%) Very rare (<4-1%) HP:0000540
36 abnormal morphology of the hippocampus 58 31 very rare (1%) Very rare (<4-1%) HP:0025100
37 delayed myelination 58 31 very rare (1%) Very rare (<4-1%) HP:0012448
38 strabismus 58 31 Occasional (29-5%) HP:0000486
39 reduced visual acuity 58 31 Frequent (79-30%) HP:0007663
40 seizures 58 Frequent (79-30%)
41 muscular hypotonia 58 Frequent (79-30%)
42 optic disc pallor 31 HP:0000543

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
delayed development

Skeletal Hands:
tapering fingers

Head And Neck Face:
dysmorphic features, variable, nonspecific

Head And Neck Eyes:
nystagmus
strabismus
cerebral visual impairment
decreased visual acuity
pale optic discs
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Clinical features from OMIM®:

615722 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.62 NR2F1 NR2F2

MGI Mouse Phenotypes related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.8 ALG6 NR2F1 NR2F2

Drugs & Therapeutics for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cross Sectional Study of Autosomal Dominant Opticus Atrophy Unknown status NCT01522638
2 Transcorneal Electrical Stimulation Therapy for Retinal Disease - A Randomized, Single-blind Pilot Study Completed NCT00804102
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Cochrane evidence based reviews: optic atrophy, autosomal dominant

Genetic Tests for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Genetic tests related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

# Genetic test Affiliating Genes
1 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 29 NR2F1

Anatomical Context for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

MalaCards organs/tissues related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

40
Eye

Publications for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Articles related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

(show all 18)
# Title Authors PMID Year
1
Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. 6 57 61
32712214 2020
2
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. 57 6 61
31729143 2020
3
Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome. 57 6 61
31393201 2019
4
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation. 61 57 6
29410510 2018
5
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 6 57 61
26986877 2016
6
NR2F1 mutations cause optic atrophy with intellectual disability. 57 6
24462372 2014
7
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. 57 61
32275123 2020
8
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. 61 6
28963436 2017
9
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. 61
32337850 2020
10
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. 61
32407885 2020
11
Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome. 61
32412696 2020
12
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients. 61
32484994 2020
13
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. 61
31600777 2020
14
A de novo nonsense mutation in the N-terminal of ligand-binding domain of NR2F1 gene provoked a milder phenotype of BBSOAS. 61
32011206 2020
15
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review. 61
31913971 2020
16
Commentary on "Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review". 61
31913972 2020
17
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 61
28777376 2017
18
COUP-TF Genes, Human Diseases, and the Development of the Central Nervous System in Murine Models. 61
28527575 2017

Variations for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

ClinVar genetic disease variations for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR2F1 NM_005654.6(NR2F1):c.413G>A (p.Cys138Tyr) SNV Pathogenic 375371 rs1057519434 GRCh37: 5:92921142-92921142
GRCh38: 5:93585436-93585436
2 NR2F1 NM_005654.6(NR2F1):c.403C>T (p.Arg135Cys) SNV Pathogenic 559633 rs1022192010 GRCh37: 5:92921132-92921132
GRCh38: 5:93585426-93585426
3 NR2F1 NM_005654.6(NR2F1):c.968_969del (p.Lys323fs) Deletion Pathogenic 827802 rs1580360308 GRCh37: 5:92924126-92924127
GRCh38: 5:93588420-93588421
4 NR2F1 NM_005654.6(NR2F1):c.120del (p.Gln40fs) Deletion Pathogenic 930895 GRCh37: 5:92920849-92920849
GRCh38: 5:93585143-93585143
5 NR2F1 NM_005654.6(NR2F1):c.169C>T (p.Gln57Ter) SNV Pathogenic 931846 GRCh37: 5:92920898-92920898
GRCh38: 5:93585192-93585192
6 NR2F1 NM_005654.6(NR2F1):c.452T>A (p.Met151Lys) SNV Pathogenic 988711 GRCh37: 5:92921181-92921181
GRCh38: 5:93585475-93585475
7 NR2F1 NM_005654.6(NR2F1):c.2T>C (p.Met1Thr) SNV Pathogenic 279855 rs886041216 GRCh37: 5:92920731-92920731
GRCh38: 5:93585025-93585025
8 NR2F1 NM_005654.6(NR2F1):c.286A>G (p.Lys96Glu) SNV Pathogenic 1048563 GRCh37: 5:92921015-92921015
GRCh38: 5:93585309-93585309
9 NR2F1 NM_005654.6(NR2F1):c.513C>G (p.Tyr171Ter) SNV Pathogenic 1048564 GRCh37: 5:92923672-92923672
GRCh38: 5:93587966-93587966
10 NR2F1 NM_005654.6(NR2F1):c.82C>T (p.Gln28Ter) SNV Pathogenic 1048565 GRCh37: 5:92920811-92920811
GRCh38: 5:93585105-93585105
11 NR2F1 NM_005654.6(NR2F1):c.1083del (p.Asn362fs) Deletion Pathogenic 1048566 GRCh37: 5:92929356-92929356
GRCh38: 5:93593650-93593650
12 NR2F1 NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) SNV Pathogenic/Likely pathogenic 126493 rs587777274 GRCh37: 5:92921073-92921073
GRCh38: 5:93585367-93585367
13 NR2F1 NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) SNV Pathogenic/Likely pathogenic 126494 rs587777275 GRCh37: 5:92921068-92921068
GRCh38: 5:93585362-93585362
14 NR2F1 NM_005654.6(NR2F1):c.289C>G (p.His97Asp) SNV Likely pathogenic 559635 rs1287146448 GRCh37: 5:92921018-92921018
GRCh38: 5:93585312-93585312
15 NR2F1 NM_005654.6(NR2F1):c.452T>C (p.Met151Thr) SNV Likely pathogenic 813799 GRCh37: 5:92921181-92921181
GRCh38: 5:93585475-93585475
16 NR2F1 NM_005654.6(NR2F1):c.289C>T (p.His97Tyr) SNV Likely pathogenic 666290 rs1287146448 GRCh37: 5:92921018-92921018
GRCh38: 5:93585312-93585312
17 NR2F1 NM_005654.6(NR2F1):c.90_99del (p.Arg31fs) Deletion Likely pathogenic 666322 rs1580358347 GRCh37: 5:92920813-92920822
GRCh38: 5:93585107-93585116
18 NR2F1 NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter) SNV Likely pathogenic 800977 rs1297603674 GRCh37: 5:92929393-92929393
GRCh38: 5:93593687-93593687
19 NR2F1 NM_005654.6(NR2F1):c.453G>C (p.Met151Ile) SNV Likely pathogenic 827762 rs1580358677 GRCh37: 5:92921182-92921182
GRCh38: 5:93585476-93585476
20 NR2F1 NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg) SNV Likely pathogenic 216974 rs863224903 GRCh37: 5:92921111-92921111
GRCh38: 5:93585405-93585405
21 NR2F1 NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter) Indel Likely pathogenic 545435 rs1554074850 GRCh37: 5:92923888-92923889
GRCh38: 5:93588182-93588183
22 NR2F1 NM_005654.6(NR2F1):c.986_990del (p.Thr329fs) Deletion Likely pathogenic 976338 GRCh37: 5:92924142-92924146
GRCh38: 5:93588436-93588440
23 NR2F1 NM_005654.6(NR2F1):c.425G>A (p.Arg142His) SNV Likely pathogenic 520777 rs1554074684 GRCh37: 5:92921154-92921154
GRCh38: 5:93585448-93585448
24 NR2F1 NM_005654.6(NR2F1):c.1097G>A (p.Arg366His) SNV Likely pathogenic 984969 GRCh37: 5:92929373-92929373
GRCh38: 5:93593667-93593667
25 NR2F1 NM_005654.6(NR2F1):c.463+1G>A SNV Likely pathogenic 930513 GRCh37: 5:92921193-92921193
GRCh38: 5:93585487-93585487
26 NR2F1 NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro) SNV Likely pathogenic 438609 rs1554075105 GRCh37: 5:92929391-92929391
GRCh38: 5:93593685-93593685
27 overlap with 4 genes Deletion Likely pathogenic 218936 GRCh37: 5:92845157-93679748
GRCh38:
28 overlap with 4 genes Deletion Likely pathogenic 218937 GRCh37: 5:91064110-93896378
GRCh38:
29 NR2F1 NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu) SNV Likely pathogenic 976672 GRCh37: 5:92921056-92921056
GRCh38: 5:93585350-93585350
30 NR2F1 NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg) SNV Likely pathogenic 928681 GRCh37: 5:92920985-92920985
GRCh38: 5:93585279-93585279
31 NR2F1 NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser) SNV Likely pathogenic 452994 rs1554074677 GRCh37: 5:92921042-92921042
GRCh38: 5:93585336-93585336
32 NR2F1 NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter) SNV Likely pathogenic 624056 rs763566932 GRCh37: 5:92929341-92929341
GRCh38: 5:93593635-93593635
33 NR2F1 NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) SNV Likely pathogenic 126495 rs587777276 GRCh37: 5:92923914-92923914
GRCh38: 5:93588208-93588208
34 NR2F1 NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) SNV Likely pathogenic 126496 rs587777277 GRCh37: 5:92921064-92921064
GRCh38: 5:93585358-93585358
35 NR2F1 NM_005654.6(NR2F1):c.257G>T (p.Cys86Phe) SNV Uncertain significance 438608 rs1554074665 GRCh37: 5:92920986-92920986
GRCh38: 5:93585280-93585280
36 NR2F1 NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr) SNV Uncertain significance 976204 GRCh37: 5:92921166-92921166
GRCh38: 5:93585460-93585460
37 NR2F1 NM_005654.6(NR2F1):c.1217T>C (p.Met406Thr) SNV Uncertain significance 417902 rs1060499589 GRCh37: 5:92929493-92929493
GRCh38: 5:93593787-93593787

UniProtKB/Swiss-Prot genetic disease variations for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 NR2F1 p.Arg112Lys VAR_071319 rs587777277
2 NR2F1 p.Ser113Arg VAR_071320 rs587777275
3 NR2F1 p.Arg115Pro VAR_071321 rs587777274
4 NR2F1 p.Leu252Pro VAR_071322 rs587777276

Expression for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Search GEO for disease gene expression data for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Pathways for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Pathways related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.91 NR2F2 NR2F1
2 9.85 NR2F2 NR2F1

GO Terms for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Biological processes related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anatomical structure development GO:0048856 8.96 NR2F2 NR2F1
2 intracellular receptor signaling pathway GO:0030522 8.62 NR2F2 NR2F1

Molecular functions related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.96 NR2F2 NR2F1
2 nuclear receptor activity GO:0004879 8.62 NR2F2 NR2F1

Sources for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....