What does this research mean for the field?

Mutations in exons 24-32 of the FBN1 gene are associated with severe, early-onset phenotypes of Marfan syndrome, including neonatal presentation and severe cardiovascular complications. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

March 29, 1996American Journal of Medical Genetics

Delineation of the Marfan phenotype associated with mutations in exons 23–32 of theFBN1 gene

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Why the study?

Are mutations in exons 23-32 of the FBN1 gene associated with neonatal Marfan syndrome or severe cardiovascular complications?

Population

8 patients with either neonatal Marfan syndrome or severe cardiovascular complications of Marfan syndrome

Design

Case_series

Authors

EPElizabeth A. PutnamUniversity of Montana MCMimi ChoThe University of Texas MD Anderson Cancer Center AZArthur B. ZinnUniversity School

Discussion

Member takes

Implication

Supports FBN1 exon 25-27 mutations in severe neonatal Marfan; hypothesis-generating and should not yet change practice.

Structured PICO

Are mutations in exons 23-32 of the FBN1 gene associated with neonatal Marfan syndrome or severe cardiovascular complications?

Population

8 patients with either neonatal Marfan syndrome or severe cardiovascular complications of Marfan syndrome

Intervention

Genetic screening of exons 23-32 of the FBN1 gene using single-stranded conformational polymorphism analysis and sequencing

Outcome

Identification of mutations in exons 23-32 of the FBN1 genesurrogate

Mutations in exons 25-27 of the FBN1 gene are associated with severe, perinatal lethal forms of Marfan syndrome and severe cardiovascular complications.

Cite This Study

Putnam et al. (1996) studied this question.

synapsesocial.com/papers/6a1be145b33628da419cf690 https://doi.org/10.1002/(sici)1096-8628(19960329)62:3<233::aid-ajmg7>3.0.co;2-u

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Delineation of the Marfan phenotype associated with mutations in exons 23–32 of theFBN1 gene

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Delineation of the Marfan phenotype associated with mutations in exons 23–32 of theFBN1 gene

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider