Bohring–Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene.
| Bohring–Opitz syndrome | |
|---|---|
| Other names | Oberklaid–Danks syndrome, C-like syndrome |
| Specialty | Medical genetics  |
| Complications | obstructive apnea, Wilms tumor, lung infections, heart problems |
| Usual onset | Congenital |
Presentation
editThis condition is characterised by craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth and failure to thrive.[1]
Children with BOS can also have recurring respiratory infections, silent aspiration, sleep apnea, developmental delay, abnormal hair density and length, Wilms' tumors, brain abnormalities, and other issues.[citation needed]
Genetics
editGenetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases.[2][3]
A second gene associated with this condition is the Kelch-like family member 7 (KLHL7).[citation needed]
Diagnosis
editAs some of these features are shared with other genetic syndromes, the diagnosis is made by genetic testing.[citation needed]
Epidemiology
editThe syndrome is extremely rare, with fewer than 80 reported cases worldwide.[citation needed]
References
edit- ^ Hastings R; Cobben JM; Gillessen-Kaesbach G; et al. (2011). "Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis". European Journal of Human Genetics. 19 (5): 513–519. doi:10.1038/ejhg.2010.234. PMC 3083618. PMID 21368916.513-519&rft.date=2011&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083618#id-name=PMC&rft_id=info:pmid/21368916&rft_id=info:doi/10.1038/ejhg.2010.234&rft.au=Hastings R&rft.au=Cobben JM&rft.au=Gillessen-Kaesbach G&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083618&rfr_id=info:sid/en.wikipedia.org:Bohring–Opitz syndrome" class="Z3988">
- ^ Hoischen A; van Bon BW; Rodríguez-Santiago B; et al. (2011). "De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome". Nature Genetics. 43 (8): 729–731. doi:10.1038/ng.868. PMID 21706002. S2CID 10367717.729-731&rft.date=2011&rft_id=https://api.semanticscholar.org/CorpusID:10367717#id-name=S2CID&rft_id=info:pmid/21706002&rft_id=info:doi/10.1038/ng.868&rft.au=Hoischen A&rft.au=van Bon BW&rft.au=Rodríguez-Santiago B&rfr_id=info:sid/en.wikipedia.org:Bohring–Opitz syndrome" class="Z3988">
- ^ Magini P; Della Monica M; Uzielli ML; et al. (2012). "Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations". American Journal of Medical Genetics Part A. 158A (4): 917–921. doi:10.1002/ajmg.a.35265. PMID 22419483. S2CID 44412661.917-921&rft.date=2012&rft_id=https://api.semanticscholar.org/CorpusID:44412661#id-name=S2CID&rft_id=info:pmid/22419483&rft_id=info:doi/10.1002/ajmg.a.35265&rft.au=Magini P&rft.au=Della Monica M&rft.au=Uzielli ML&rfr_id=info:sid/en.wikipedia.org:Bohring–Opitz syndrome" class="Z3988">
External links
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