Loeys-Dietz syndrome

Definition:

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder characterized by arterial aneurysms and dissections, pectus excavatum, craniosynostosis, cleft palate, congenital heart disease, and thin, translucent skin. LDS results from mutations in the TGF beta receptor genes. LDS has been subdivided in LDS1 and LDS2 on the basis of the presence or the absence of craniofacial involvement, respectively. LDS3 is associated with early-onset osteoarthritis and caused by mutation in the SMAD3 gene. LDS4 and LDS5 are caused by mutation in the TGFB2 and TGFB3 gene, respectively.

References:

[1]. Bruno Drera, et al. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. Orphanet J Rare Dis. 2009 Nov 2;4:24. [Content Brief]

[2]. Dianna M Milewicz, et al. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet. 2008;9:283-302. [Content Brief]

[3]. Elyssa Cannaerts, et al. Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. J Med Genet. 2019 Apr;56(4):220-227. [Content Brief]

[4]. Hugh Young Rienhoff Jr, et al. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. Am J Med Genet A. 2013 Aug;161A(8):2040-6. [Content Brief]

[5]. Ingrid M B H van de Laar, et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet. 2011 Feb;43(2):121-6. [Content Brief]

[6]. Mark E Lindsay, et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet. 2012 Jul 8;44(8):922-7. [Content Brief]

[7]. Vivek B Kalra, et al. Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. Pediatr Radiol. 2011 Dec;41(12):1495-504; quiz 1616. [Content Brief]

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