Bohring–Opitz syndrome

Bohring–Opitz Syndrome (BOS) is a rare genetic disorder characterized by distinctive facial features, growth delays, intellectual disability, and various physical abnormalities. It was first described by Axel Bohring and others in 1999. The syndrome is caused by mutations in the ASXL1 gene.

Symptoms and Signs

The symptoms of Bohring–Opitz Syndrome vary among affected individuals. Common symptoms include:

• Distinctive facial features such as prominent eyes, a small nose with upturned nostrils, and a wide mouth with downturned corners.
• Growth delays, including severe feeding difficulties, failure to thrive, and slow growth.
• Intellectual disability, which is usually severe.
• Physical abnormalities, including skeletal abnormalities, heart defects, and increased risk of Wilms tumor.

Causes

Bohring–Opitz Syndrome is caused by mutations in the ASXL1 gene. This gene provides instructions for making a protein that is involved in regulating other genes. Mutations in the ASXL1 gene disrupt the normal development of many parts of the body, leading to the features of Bohring–Opitz Syndrome.

Diagnosis

Diagnosis of Bohring–Opitz Syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the ASXL1 gene.

Treatment

There is currently no cure for Bohring–Opitz Syndrome. Treatment is supportive and based on the symptoms in each individual. This may include feeding support, physical therapy, and management of any other medical conditions.

See Also

• Genetic Disorders
• ASXL1
• Wilms Tumor

References

• Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A, Opitz JM. Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet. 1999 Aug 27;85(5):438-46. doi: 10.1002/(sici)1096-8628(19990827)85:5<438::aid-ajmg3>3.0.co;2-6. PMID: 10440833.
• Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011 Aug;43(8):729-31. doi: 10.1038/ng.868. Epub 2011 Jul 3. PMID: 21725329; PMCID: PMC3738812.

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