November 12, 2008European Journal of Human GeneticsOpen Access

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

Q: What is the clinical evidence from this study?

Study design: Observational. Population: Marfan syndrome (n=198). Intervention: Premature termination codon (PTC) mutation within FBN1 exons 24-32 vs. In-frame mutation within FBN1 exons 24-32. Primary outcome: Ectopia lentis, mitral insufficiency, and neonatal or severe MFS presentation.

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Key result

In-frame FBN1 mutations link to higher ectopia lentis and mitral insufficiency risk versus PTC mutations.

n=198

Population

198 probands with a pathogenic FBN1 mutation in exons 24-32

Design

Cohort

Authors

LFLaurence FaivrePediatric / Congenital Cardiology GCGwenaëlle Collod‐BéroudCross-Cutting Cardiology BCBert CallewaertPediatric Cardiology

Discussion

Member takes

Implication

Supports refined prognostication in Marfan syndrome; leaves open prospective validation before influencing surveillance.

Study Design

Type

Observational (n=198)

Multicenter

Yes

Structured PICO

Population

198 probands with a pathogenic FBN1 exons 24-32 mutation from an international series of 1013 probands with a FBN1 mutation.

Comparator

Patients with mutations leading to a premature termination codon (PTC) within exons 24-32 compared to patients with an in-frame mutation within the same region

Outcome

Phenotypic manifestations including ectopia lentis, mitral insufficiency, and neonatal or severe Marfan syndrome presentation

In patients with Marfan syndrome, the type of FBN1 mutation (in-frame vs PTC) within exons 24-32 significantly influences the severity and type of clinical manifestations, highlighting the role of mutation type and potential modifier genes.

Cite This Study

Faivre et al. (2008) conducted an observational in Marfan syndrome (n=198). Premature termination codon (PTC) mutation within FBN1 exons 24-32 vs. In-frame mutation within FBN1 exons 24-32 was evaluated on Ectopia lentis, mitral insufficiency, and neonatal or severe MFS presentation. In-frame mutations in FBN1 exons 24-32 were associated with a significantly higher probability of ectopia lentis and mitral insufficiency compared to premature termination codon mutations.

synapsesocial.com/papers/6aa3f40edd5797a3831aa9f0 https://doi.org/10.1038/ejhg.2008.207

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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Also Consider

Also Consider