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rs28934568(C;T)

From SNPedia
Loeys-Dietz Syndrome
Is agenotype
ofrs28934568
GeneTGFBR2
Chromosome3
Position30,672,106
mentionedby
Magnitude7.0
ReputeBad
Geno Mag Summary
(C;C) 3
(C;T) 7 Loeys-Dietz Syndrome
(T;T) 0 common in clinvar

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Loeys-Dietz syndrome (LDS) comprises combinations of various clinical issues with vascular, skeletal, immune, eye and gastrointestinal manifestations.
  • LDS subtypes from most to least severe are LDS1 & 2 (due to TGFBR1 & TGFBR2 mutations; with craniofacial features), LDS3 (SMAD3; with osteoarthritis), LDS4 (TGFB2), and LDS5 (TGFB3).
  • Life-threatening consequences of LDS mutations include being predisposed to arterial aneurysms and, during pregnancy, rupture of the spleen, bowel, and uterus.
  • Management of LDS is most effective through the coordinated input of a multidisciplinary team of specialists including a clinical geneticist, cardiologist, ophthalmologist, orthopedist, and cardiothoracic surgeon, and may include prophylactic surgery.
  • Individuals with a pathogenic variant in TGFBR1 or TGFBR2 should be taught the signs and symptoms of aortic dissection and should consider wearing a medical alert bracelet.
  • Patients should undergo complete aortic imaging periodically.
  • Patients should avoid heart stimulating drugs, heavy lifting, and competitive sports that involve intense exercise or bodily collisions.

The full ClinGen Actionability report about Loeys-Dietz syndrome (LDS) can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.