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Branchiootic syndrome 2(BOS2)

MedGen UID:
377737
•Concept ID:
C1852718
•
Disease or Syndrome
Synonyms: BO SYNDROME 2; BOS2
 
Monarch Initiative: MONDO:0007360
OMIM®: 120502

Clinical features

From HPO
Abnormal pinna morphology
MedGen UID:
167800
•Concept ID:
C0857379
•
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Preauricular pit
MedGen UID:
120587
•Concept ID:
C0266610
•
Congenital Abnormality
Small indentation anterior to the insertion of the ear.
See: Feature record | Search on this feature
Commissural lip pits
MedGen UID:
98001
•Concept ID:
C0399605
•
Finding
A depression located at an oral commissure.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.
Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X
Mol Med Rep 2018 Nov;18(5):4271-4280. Epub 2018 Sep 5 doi: 10.3892/mmr.2018.9455. PMID: 30221713Free PMC Article
Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome.
Kadaba P, Arepalli S, Shields JA, Shields CL
J AAPOS 2014 Apr;18(2):201-3. doi: 10.1016/j.jaapos.2013.11.022. PMID: 24698626

Clinical prediction guides

Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.
Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X
Mol Med Rep 2018 Nov;18(5):4271-4280. Epub 2018 Sep 5 doi: 10.3892/mmr.2018.9455. PMID: 30221713Free PMC Article
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?
Kause F, Reutter H, Marsch F, Thiele H, Altmüller J, Ludwig M, Zhang R
Mol Med Rep 2018 Feb;17(2):3200-3205. Epub 2017 Dec 6 doi: 10.3892/mmr.2017.8196. PMID: 29257230
Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.
Dantas VG, Freitas EL, Della-Rosa VA, Lezirovitz K, de Moraes AM, Ramos SB, Oiticica J, Alves LU, Pearson PL, Rosenberg C, Mingroni-Netto RC
Int J Audiol 2015;54(9):593-8. Epub 2015 Apr 30 doi: 10.3109/14992027.2015.1030511. PMID: 25926005

Supplemental Content

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