Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked genetic disorder characterized by intellectual disability, seizures, and dysmorphic facial features. It is a form of intellectual disability that is caused by a mutation in the NSDHL gene, which normally produces an enzyme involved in cholesterol metabolism. BFLS is associated with a wide range of physical and behavioral impairments, with the most common being severe intellectual disability, seizures, hypotonia, and dysmorphic facial features.
The NSDHL gene, located on the X chromosome, produces an enzyme involved in cholesterol metabolism. Mutations in this gene are the cause of BFLS. The mutation leads to a decrease in the amount of the enzyme produced, which in turn leads to an accumulation of cholesterol in the body. This accumulation can lead to a variety of physical and behavioral impairments, including intellectual disability, seizures, hypotonia, and dysmorphic facial features.
The diagnosis of BFLS is based on clinical features, family history, and molecular genetic testing. Clinical features include intellectual disability, seizures, hypotonia, and dysmorphic facial features. Family history may reveal a pattern of X-linked inheritance, with male affected individuals and female carriers. Molecular genetic testing is used to detect mutations in the NSDHL gene.
There is currently no cure for BFLS, but there are treatments available to help manage the symptoms. These include medications to control seizures, physical therapy to improve muscle tone, and speech and language therapy to improve communication skills. Additionally, special education can help improve academic performance and social skills.
BFLS is a rare disorder, but it is important to be aware of it and the implications it has for affected individuals and families. Early diagnosis and treatment can help improve the quality of life for those affected by BFLS.
References
Feng, Y., Zhang, Y., Li, G., & Zhang, Y. (2018). Borjeson-Forssman-Lehmann syndrome: Clinical manifestations and molecular genetics. Molecular Genetics & Genomic Medicine, 6(6), e512-e525. https://doi.org/10.1002/mgg3.512
Lalani, S. R., & O’Halloran, K. A. (2020). Borjeson-Forssman-Lehmann Syndrome. In GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1456/
Sarkar, A., & Ansari, M. (2016). Borjeson-Forssman-Lehmann Syndrome. Journal of Clinical and Diagnostic Research, 10(7), SC02–SC04. https://doi.org/10.7860/JCDR/2016/17792.8132