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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome

Dimple Sureka1, Chantal Stheneur2, Sylvie Odent3

  • 1Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.

Journal of Pediatric Genetics
|September 15, 2016
PubMed

Insights

The isoleucine for threonine at codon 1048 (I1048T) substitution is linked to severe Marfan syndrome (MFS). This study confirms the I1048T genotype-phenotype correlation, aiding MFS care and genetic counseling.

Area of Science:

  • Genetics
  • Medical Genetics
  • Molecular Biology

Background:

  • Marfan syndrome (MFS) is a genetic disorder affecting connective tissue.
  • The genotype-phenotype correlation in MFS is not fully established.
  • The isoleucine for threonine at codon 1048 (I1048T) substitution has been suggested to cause severe MFS.

Purpose of the Study:

  • To substantiate the association between the I1048T substitution and a severe clinical presentation of MFS.
  • To facilitate improved care planning and genetic counseling for MFS patients.
  • To explore the underlying pathophysiology of MFS related to the I1048T substitution.

Main Methods:

  • Review of clinical findings from seven individuals with early-onset MFS and the I1048T substitution.
  • Inclusion of one newly diagnosed case and detailed information from three additional cases.
  • Synthesis of published data from three previously reported cases.

Main Results:

  • All seven individuals presented with mitral insufficiency, arachnodactyly, and characteristic facies.
  • These clinical features are consistent with early-onset Marfan syndrome.
  • The findings support a strong genotype-phenotype correlation for the I1048T substitution.

Conclusions:

  • The I1048T substitution is significantly correlated with a severe early-onset Marfan syndrome phenotype.
  • This genotype-phenotype correlation has direct implications for clinical management and genetic counseling.
  • Further research into the I1048T substitution's mechanism may elucidate MFS pathophysiology.
Keywords:
FBN1Marfan syndromegenotype-phenotype correlationsevere early onset

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