Bohring–Opitz syndrome

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

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]}

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]}

As some of these features are shared with other genetic syndromes, the diagnosis is made by genetic testing.^{[citation needed]}

The syndrome is extremely rare, with fewer than 80 reported cases worldwide.^{[citation needed]}

^ 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.

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This page was last edited on 15 April 2024, at 06:36