Table 2.

Loeys-Dietz Syndrome (LDS): Associated Genes and Subtypes

GeneSubtype of LDS 1CommentReference
TGFBR1 LDS1 2Loeys et al [2005], Loeys et al [2006]
TGFBR2 LDS2 2
SMAD3 LDS3 3Strong predisposition for osteoarthritis 4 van de Laar et al [2011]
TGFB2 LDS4Systemic findings possibly less severe & more like Marfan syndrome 5Lindsay et al [2012], Bertoli-Avella et al [2015]
TGFB3 LDS5
1.

Ordered from most to least severe

2.

No differences in phenotype are observed between individuals with a heterozygous pathogenic variant in TGFBR1 and those with a heterozygous pathogenic variant in TGFBR2.

3.

The severity of aortic disease in individuals with a heterozygous pathogenic variant in SMAD3 is similar to that associated with a heterozygous pathogenic variant in TGFBR1 or TGFBR2.

4.

Several individuals with a heterozygous pathogenic variant in SMAD3 who do not have osteoarthritis have been reported [Wischmeijer et al 2013].

5.

From: Loeys-Dietz Syndrome

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