Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic disorder that affects connective tissue, and that may involve a number of clinical manifestations: complications in the cardiovascular system (brain or arterial aneurysms, dissections ...), in the system skeletal (scoliosis, arachnodactyly, joint laxity ...) and dysmorphic craniofacial (cleft palate, widely spaced eyes, craniosynostosis ...).
There are different types and subtypes of the syndrome, but one of the main differences between LDS type I and LDS type II, is that the first type shows cleft palate craniofacial abnormalities, craniosynostosis, or hypertelorism, while LDS II patients present bifid uvula.
Our NGS panel provides the sequencing of two major genes involved in Loeys-Dietz syndrome: TGFBR1 (TGF beta receptor 1 is mutated in approximately 20% of cases) and TGFBR2 (receiver TGF beta 2 presents mutations in 70% of affected patients).
The exact prevalence of LDS is unknown, and there has been an increase in the number of patients in terms of racial or gender differences.
Loeys-Dietz syndrome has an autosomal dominant inheritance, in which about 25% of patients have an affected parent, and in another part of affected individuals have de novo mutations.
Each offspring of a parent with LDS will have a 50% chance of inheriting the mutation and disease, hence the importance of genetic counseling.