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Mutation in Genes FBN1, AKT1, and LMNA: Marfan Syndrome, Proteus Syndrome, and Progeria Share Common Systemic Involvement
Author(s) -
Tonmoy Biswas
Publication year - 2015
Publication title -
international journal of medical students
Language(s) - English
Resource type - Journals
ISSN - 2076-6327
DOI - 10.5195/ijms.2015.124
Subject(s) - lmna , progeria , marfan syndrome , genetics , medicine , gene , bioinformatics , premature aging , biology , mutation
Genetic mutations are becoming more deleterious day by day. Mutations of Genes FBN1, AKT1, LMNA cause specific protein malfunction that in turn commonly result 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. 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 specifically individual signs and symptoms, the mutual manifestations were worth mentioning that are and systemically mentioned in this review. There can be some mutual properties of the genes FBN1, AKT1, and LMNA or their corresponding proteins. This review suggests that more concern and research in this field is necessitated.

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