Associated disorders

The TGFBR1 gene is associated with autosomal dominant thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 468423), Loeys-Dietz syndrome (LDS) (MedGen UID: 395828), and multiple self-healing squamous epithelioma (MedGen UID: 154270).

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Pathogenic TGFBR1 variants are associated with ~20% of clinical cases of LDS and are a rare cause of TAAD.

The TGFBR1 gene encodes transforming growth factor beta receptor 1 protein, a transmembrane serine-threonine kinase receptor involved in TGF-beta signaling and mediation of the induction of several genes involved in cell-matrix interactions.

  1. Gallo, EM, et al. Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. J. Clin. Invest. 2014; 124(1):448-60. doi: 10.1172/JCI69666. PMID: 24355923
  2. Kang, HC, et al. Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology. J. Invest. Dermatol. 2013; 133(7):1907-10. doi: 10.1038/jid.2013.45. PMID: 23358096
  3. Milewicz, DM, Regalado, E. Thoracic Aortic Aneurysms and Aortic Dissections. 2003 Feb 13. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: PMID: 20301299
  4. Lerner-Ellis, JP, et al. The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). Mol. Genet. Metab. 2014; 112(2):171-6. doi: 10.1016/j.ymgme.2014.03.011. PMID: 24793577
  5. Stheneur C et al. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat. 2008 Nov;29(11):E284-95. PMID: 18781618
  6. Loeys, BL, Dietz, HC. Loeys-Dietz Syndrome. 2008 Feb 28. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: PMID: 20301312

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
TGFBR1 NM_004612.2