Mutation in Genes FBN1, AKT1, and LMNA: Marfan Syndrome, Proteus Syndrome, and Progeria Share Common Systemic Involvement

  • Tonmoy Biswas 5th year MBBS, Faridpur Medical College, University of Dhaka, Bangladesh.
Keywords: Genetic mutation, Marfan syndrome, Proteus syndrome, Progeria, Gene FBN1, Gene AKT1, Gene LMNA, Musculo-skeletal system, Cardiovascular system, Eye, Nervous system


Genetic mutations are becoming more deleterious day by day. Mutations of Genes named FBN1, AKT1, LMNA result specific protein malfunction that in turn commonly cause Marfan syndrome, Proteus syndrome, and Progeria, respectively. Articles about these conditions have been reviewed in PubMed and Google scholar with a view to finding relevant clinical features. Precise keywords have been used in search for systemic involvement of FBN1, AKT1, and LMNA gene mutations. It has been found that Marfan syndrome, Proteus syndrome, and Progeria commonly affected musculo-skeletal system, cardiovascular system, eye, and nervous system. Not only all of them shared identical systemic involvement, but also caused several very specific anomalies in various parts of the body. In spite of having some individual signs and symptoms, the mutual manifestations were worth mentioning. Moreover, all the features of the mutations of all three responsible genes had been co-related and systemically mentioned in this review. There can be some mutual properties of the genes FBN1, AKT1, and LMNA or in their corresponding proteins that result in the same presentations. This study may progress vision of knowledge regarding risk factors, patho-physiology, and management of these conditions, and relation to other mutations.

Author Biography

Tonmoy Biswas, 5th year MBBS, Faridpur Medical College, University of Dhaka, Bangladesh.

Tonmoy Biswas is currently a final year medical student of MBBS (Bachelor of Medi¬cine, Bachelor of Surgery) in Faridpur Medical Colle¬ge, University of Dhaka, Bangladesh. He is also a candidate of ‘Masters of Bio-ethics and Global Public Health’ in American Univer¬sity of Sovereign Nations (AUSN), Arizona, United states


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How to Cite
Biswas, T. (2015). Mutation in Genes FBN1, AKT1, and LMNA: Marfan Syndrome, Proteus Syndrome, and Progeria Share Common Systemic Involvement. International Journal of Medical Students, 3(2), 92-101.