Bohring–Opitz syndrome explained

Bohring–Opitz syndrome
Synonyms:	Oberklaid–Danks syndrome, C-like syndrome
Complications:	obstructive apnea, Wilms tumor, lung infections, heart problems
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.

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.

Epidemiology

The syndrome is extremely rare, with fewer than 80 reported cases worldwide.

Notes and References

1. Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis . Hastings R . Cobben JM . Gillessen-Kaesbach G . European Journal of Human Genetics . 2011 . 19 . 5 . 513–519 . 10.1038/ejhg.2010.234. etal . 21368916 . 3083618.
2. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome . Hoischen A . van Bon BW . Rodríguez-Santiago B . Nature Genetics . 2011 . 43 . 8 . 729–731 . 10.1038/ng.868. 21706002 . 10367717 . etal.
3. Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations . Magini P . Della Monica M . Uzielli ML . American Journal of Medical Genetics Part A . 2012 . 158A . 4 . 917–921 . 10.1002/ajmg.a.35265. etal . 22419483. 44412661 .