BPIFA2
Blog Post: bpifa2: Delving into the Complexities of a Rare Genetic Condition
Description:
Bpifa2 is a rare genetic disorder characterized by mutations in the bpifa2 gene, which provides instructions for creating a protein crucial for cell growth and division. This protein is essential for the normal development of many organs and tissues, particularly during early embryonic stages.
Associated Diseases:
Mutations in the bpifa2 gene have been associated with the following conditions:
- Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS): A rare genetic condition characterized by severe visual impairment, neurological abnormalities, and respiratory problems.
- Developmental Delay/Intellectual Disability (DD/ID) with or without Dysmorphic Features: A range of developmental and cognitive issues, sometimes accompanied by distinctive physical characteristics.
- Microcephaly: An abnormally small head circumference.
- Other Rare Syndromes: Including some cases of Meier-Gorlin syndrome and orofaciodigital syndrome type 6.
Did you Know ?
Bpifa2 mutations are estimated to affect approximately 1 in 100,000 to 1 in 500,000 individuals worldwide.
