Disease #04062 (BBSOAS (Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)), OMIM:615722)

Official abbreviation	BBSOAS
Name	Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
OMIM ID	615722
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	18
Phenotype entries for this disease	17
Associated with 1 gene	NR2F1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2020-06-10 14:41:27 +02:00 (CEST)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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18 entries on 1 page. Showing entries 1 - 18.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00039400	Individual 1 / 26350515-Pat13	PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016	-	M	no	Netherlands	-	>12y	-	-	-	BBSOAS, CVI, ID	Protruding ear (HP:0000411); Abnormality of the nares (HP:0005288); Thick nasal alae (HP:0009928); Abnormality of the thorax (HP:0000765); Long fingers (HP:0100807); Long toe (HP:0010511); Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Abnormal macular morphology (HP:0001103); Abnormal timing of flash visual evoked potentials (HP:0030461); Abnormal timing of pattern onset/offset visual evoked potentials (HP:0030458); Eccentric visual fixation (HP:0025549); Intellectual disability, moderate (HP:0002342); Cerebral visual impairment (HP:0100704); Neurodevelopmental delay (HP:0012758); Visual field defect (HP:0001123); Strabismus (HP:0000486)	-	NHLRC2, NR2F1, PLAC1L, POF1B	6	1	Danielle Bosch
00039410	Individual 2	PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016	-	F	no	Netherlands	-	>02y	-	-	-	BBSOAS, CVI, ID	Epicanthus (HP:0000286); Anteverted nares (HP:0000463); Wide mouth (HP:0000154); Thick vermilion border (HP:0012471); Protruding ear (HP:0000411); Uplifted earlobe (HP:0009909); Tapered finger (HP:0001182); Prominent fingertip pads (HP:0001212); Slow-growing hair (HP:0002217); Muscular hypotonia (HP:0001252); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal timing of flash visual evoked potentials (HP:0030461); Neurodevelopmental delay (HP:0012758); Cerebral visual impairment (HP:0100704)	ACP6, NR2F1	ACP6, NR2F1	2	1	Danielle Bosch
00043807	Individual 3	PubMed: Bosch 2014, Journal: Bosch 2014	-	F	no	-	-	>18y	-	-	-	BBSOAS	Upslanted palpebral fissure (HP:0000582); Hypoplastic nasal bridge (HP:0005281); Retrognathia (HP:0000278); High palate (HP:0000218); Long fingers (HP:0100807); Long toe (HP:0010511); Muscular hypotonia (HP:0001252); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Abnormality of eye movement (HP:0000496); Nystagmus (HP:0000639); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal timing of pattern reversal visual evoked potentials (HP:0030460); Intellectual disability, mild (HP:0001256); Cerebral visual impairment (HP:0100704)	NR2F1	NR2F1	1	1	Johan den Dunnen
00311079	P2	PubMed: Bertacchi 2020	-	M	?	France	-	-	-	-	-	BBSOAS	Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Inguinal hernia (HP:0000023); Intellectual disability (HP:0001249); Delayed fine motor development (HP:0010862); Apraxia (HP:0002186); Hypermetropia (HP:0000540); Strabismus (HP:0000486); Hypoplasia of the corpus callosum (HP:0002079); Ventriculomegaly (HP:0002119); Abnormality of the cerebral ventricles (HP:0002118); Abnormal cortical gyration (HP:0002536)	NR2F1	NR2F1	1	1	Benjamin Billiet
00311092	DGAP169	PubMed: Brown 2009	-	F	-	-	-	-	-	-	-	BBSOAS	Caesarian section (HP:0011410); Poor suck (HP:0002033); Dysphagia (HP:0002015); Abnormality of the scalp hair (HP:0100037); Facial asymmetry (HP:0000324); Upslanted palpebral fissure (HP:0000582); Anteverted nares (HP:0000463); Broad nasal tip (HP:0000455); Micrognathia (HP:0000347); Abnormality of the pinna (HP:0000377); Muscular hypotonia of the trunk (HP:0008936); Reduced tendon reflexes (HP:0001315); Profound sensorineural hearing impairment (HP:0011476); Abnormality of the vestibulocochlear nerve (HP:0009591); Cochlear malformation (HP:0008554); Abnormality of the middle ear ossicles (HP:0004452); Abnormality of the vestibular window (HP:0040100); Abnormality of the seventh cranial nerve (HP:0010827); Growth delay (HP:0001510); Apneic episodes in infancy (HP:0005949); Strabismus (HP:0000486); Temporal hypotrichosis (HP:0004524); Delayed gross motor development (HP:0002194); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750);	NR2F1	GALNT10, NR2F1	3	1	Benjamin Billiet
00311172	Case 2	PubMed: Kaiwar 2017	-	F	?	-	-	-	-	-	-	BBSOAS	Caesarian section (HP:0011410); Premature rupture of membranes (HP:0001788); Maternal hypertension (HP:0008071); Hyperemesis gravidarum (HP:0012188); Feeding difficulties in infancy (HP:0008872); Nasogastric tube feeding in infancy (HP:0011470); Heart murmur (HP:0030148); Bicuspid aortic valve (HP:0001647); Aortic aneurysm (HP:0004942); Muscular hypotonia (HP:0001252); Amblyopia (HP:0000646); Anisometropia (HP:0012803); Strabismus (HP:0000486); Neurodevelopmental delay (HP:0012758); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Stereotypy (HP:0000733); Hypertelorism (HP:0000316); Synophrys (HP:0000664); Cupped ear (HP:0000378); Macrocephaly (HP:0000256); Broad proximal phalanges of the hand (HP:0009852)	NOTCH1, NR2F1, SGSH	NOTCH1, NR2F1, SGSH	3	1	Benjamin Billiet
00311174	Individual 2	PubMed: Chen 2016	-	F	?	-	-	-	-	-	-	BBSOAS	Abnormal visual fixation (HP:0025404); Feeding difficulties in infancy (HP:0008872); Infantile spasms (HP:0012469); Hypoplasia of the corpus callosum (HP:0002079); Cerebral white matter hypoplasia (HP:0012430); Delayed ability to sit (HP:0025336); Muscular hypotonia (HP:0001252); Esotropia (HP:0000565); Amblyopia (HP:0000646); Global developmental delay (HP:0001263); Cerebral visual impairment (HP:0100704)	NR2F1	NR2F1	1	1	Benjamin Billiet
00311175	Individual 6	PubMed: Chen 2016	-	M	?	-	-	-	-	-	-	BBSOAS	Caesarian section (HP:0011410); Muscular hypotonia (HP:0001252); Esotropia (HP:0000565); Hypermetropia (HP:0000540); Amblyopia (HP:0000646); Delayed speech and language development (HP:0000750)	NR2F1	NR2F1	1	1	Benjamin Billiet
00311176	Individual 7	PubMed: Chen 2016	-	M	?	-	-	-	-	-	-	BBSOAS	Caesarian section (HP:0011410); Cupped ear (HP:0000378); Narrow mouth (HP:0000160); Sloping forehead (HP:0000340); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Astigmatism (HP:0000483); Autistic behavior (HP:0000729); Aggressive behavior (HP:0000718); Generalized-onset seizure (HP:0002197); EEG with central focal spikes (HP:0012014)	NR2F1	NR2F1	1	1	Benjamin Billiet
00311177	Individual 13	PubMed: Chen 2016	-	F	?	-	-	-	-	-	-	BBSOAS	Delayed ability to walk (HP:0031936); Absent speech (HP:0001344); Poor eye contact (HP:0000817); Reduced visual acuity (HP:0007663); Accommodative esotropia (HP:0020046); Hypermetropia (HP:0000540); Cerebral visual impairment (HP:0100704); Myopathic facies (HP:0002058); Muscular hypotonia (HP:0001252); Persistent head lag (HP:0032988);	NR2F1	NR2F1	1	1	Benjamin Billiet
00311178	Individual 20	PubMed: Chen 2016	-	F	?	-	-	-	-	-	-	BBSOAS	Induced vaginal delivery (HP:0030369); Delayed ability to walk (HP:0031936); Muscular hypotonia (HP:0001252); Frequent falls (HP:0002359); Clumsiness (HP:0002312); Delayed speech and language development (HP:0000750); Delayed fine motor development (HP:0010862); Impaired mastication (HP:0005216); Dysphagia (HP:0002015); Intention tremor (HP:0002080); Reduced visual acuity (HP:0007663); Myopia (HP:0000545); Macrocephaly (HP:0000256)	NR2F1	NR2F1	1	1	Benjamin Billiet
00311179	Patient 12A926	PubMed: Dimassi 2016	-	M	?	-	-	-	-	-	-	BBSOAS	Maternal diabetes (HP:0009800); Failure to thrive (HP:0001508); Muscular hypotonia (HP:0001252); Hypsarrhythmia (HP:0002521); Infantile spasms (HP:0012469); Abnormality of lateral ventricle (HP:0030047); Cognitive impairment (HP:0100543); Absent speech (HP:0001344); Autistic behavior (HP:0000729)	NR2F1	NR2F1	1	1	Benjamin Billiet
00311371	ID 33	PubMed: Rech 2020	-	M	?	-	-	-	-	-	-	BBSOAS	Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968);	NR2F1, ZNF469	NR2F1	1	1	Benjamin Billiet
00312024	-	-	-	F	?	France	-	-	-	-	-	BBSOAS	Intellectual disability (HP:0001249); Amblyopia (HP:0000646)	NR2F1	NR2F1	1	1	Benjamin Billiet
00312026	-	-	-	F	no	France	-	-	-	-	-	BBSOAS	Hearing impairment (HP:0000365); Herniation of intervertebral nuclei (HP:0008441)	NR2F1	NR2F1	1	1	Benjamin Billiet
00314752	-	PubMed: Balciuniene 2019	-	?	?	-	-	-	-	-	-	BBSOAS	-	NR2F1	NR2F1	1	1	Benjamin Billiet
00320445	172742	-	-	F	-	Germany	-	-	-	-	-	BBSOAS	Optic atrophy (HP:0000648); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Seizure (HP:0001250); Abnormality of higher mental function (HP:0011446); Abnormal nervous system physiology (HP:0012638); Neurodevelopmental delay (HP:0012758); Neurodevelopmental abnormality (HP:0012759); Abnormality of the optic disc (HP:0012795)	NR2F1	NR2F1	1	1	Andreas Laner
00359597	-	-	-	M	?	France	-	-	-	-	-	BBSOAS	Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Nystagmus (HP:0000639)	NR2F1	NR2F1	1	1	Benjamin Billiet

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Global Variome shared LOVD