Bohring–Opitz syndrome

Bohring–Opitz syndrome
Synonyms Oberklaid–Danks syndrome
Specialty Medical genetics Edit this on Wikidata

Bohring–Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene. It is diagnosed by genetic testing and 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] Some of these features are shared with other genetic syndromes.

Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases.[2][3]

The syndrome is extremely rare, with fewer than 80 known cases worldwide. The leading cause of death is respiratory infections. Children with BOS can have feeding difficulties, recurring respiratory infections, sleep apnea, developmental delay, failure to thrive, abnormal hair density and length, Wilms' tumors, brain abnormalities, silent aspiration and other issues.

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
Classification


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