TGFBR1, Full Gene Sequence Clinical Information Discusses
physiology, pathophysiology, and general clinical aspects, as
they relate to a laboratory test Mutations in the TGFBR1 gene
have been implicated in a range of autosomal dominant conditions
with a considerable degree of phenotypic overlap. The genetic
disease most commonly associated with TGFBR1 mutations is Loeys-
Dietz syndrome (LDS), which is characterized by cerebral,
thoracic and abdominal arterial aneurysms and/or dissections, as
well as skeletal anomalies (chest abnormalities, scoliosis,
joint laxity, arachnodactyly). LDS can also be caused by
mutations in the TGFBR2 gene. LDS is divided into LDS type I and
LDS type II based on phenotype, then further categorized
depending on the causative gene. Both LDS type I and II involve
the cardiovascular and skeletal manifestations mentioned above.
In addition, LDS type I involves craniofacial manifestations
including hypertelorism, bifid uvula/cleft palate, and
craniosynostosis. LDS type I caused by a TGFB