What is the pathogenesis of Bosma syndrome?

Date:2023-01-07
Bosma syndrome is a rare genetic abnormality caused by a mutation in the NPHP1 gene. The mutation affects the DNA code and results in a decrease or absence of a specific protein. Without this protein, normal cell growth and development is disrupted and can lead to a variety of physical and developmental issues, including complicated multi-systemic brain and eye abnormalities. Individuals with Bosma Syndrome often have vision loss caused by optic nerve atrophy, structural changes in the retina, and abnormalities in the structure and development of the optic nerve and related structures. Additionally, abnormalities of the brain may result in hydrocephalus, seizures, and cognitive delays. Some individuals may also experience hearing loss, cardiac anomalies, respiratory problems, and problems with their gastrointestinal system.
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