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 edit
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 edit
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).[citation needed]
Diagnosis edit
As some of these features are shared with other genetic syndromes, the diagnosis is made by genetic testing.[citation needed]
Epidemiology edit
The 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.
- ^ 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.
- ^ 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.
External links edit
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