Medicine:Bohring–Opitz syndrome
| Bohring–Opitz syndrome | |
|---|---|
| Other names | Oberklaid–Danks syndrome, C-like syndrome |
| Complications | obstructive apnea, Wilms tumor, lung infections, heart problems |
| Usual onset | Congenital |
Bohring–Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene.
Presentation
This condition is characterised by characteristic 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
Genetically, 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).
Diagnosis
As some of these features are shared with other genetic syndromes, the diagnosis is made by genetic testing.[citation needed]
Epidemiology
The syndrome is extremely rare, with fewer than 80 reported cases worldwide.[citation needed]
References
- ↑ Hastings R 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. PMID 21368916.
- ↑ Hoischen A 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.
- ↑ Magini P 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.
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