Bohring–Opitz syndrome
Bohring–Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene.
| Bohring–Opitz syndrome | |
|---|---|
| Other names | Oberklaid–Danks syndrome |
| Specialty | Medical genetics  |
Clinical
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.
The leading cause of death is respiratory infections.
As some of these features are shared with other genetic syndromes, the diagnosis is made by genetic testing.
Genetics
Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases.[2][3]
Epidemiology
The syndrome is extremely rare, with fewer than 80 reported cases worldwide.
References
- 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.
- 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.