Table 1.

Vascular Diseases Associated with Mutations of Notch Pathway Components

Notch Component	Mutation Site	Notch Signaling Effect	Disease Outcome
Jagged1	Identified in every exon and several splice sites	Loss of function	Alagille syndrome1
	EGF-like repeat 2	Not known	Tetralogy of Fallot2
DLL4	DSL domain, N-terminal domain, and EGF-like repeats	Predicted loss of function	Adams–Oliver syndrome3
Notch1	Haploinsufficiency, EGF-like repeat 11, LNR 2, ANK domain 3	Predicted loss of function	Adams–Oliver syndrome4
	Haploinsufficiency, EGF-like repeat 29	Predicted loss of function	Bicuspid aortic valve5
Notch2	Truncated NICD	Predicted loss of function	Alagille syndrome6
	PEST domain	Predicted gain of function	Hajdu–Cheney7
Notch3	EGF-like repeats 1–32	Likely loss of function	CADASIL8–11
	PEST domain	Predicted gain of function	Lehman12
	Heterodimerization domain	Predicted gain of function	Infantile myofibromatosis13
	EGF-like repeats 21 and 23	Not known	Childhood PAH14
RBPJ	DNA-binding domain	Loss of Function	Adams–Oliver syndrome15
EOGT	Domains not defined	Predicted loss of function	Adams–Oliver syndrome16

References:

¹Spinner et al. (2001);

²Eldadah et al. (2001);

³Meester et al. (2015);

⁴Stittrich et al. (2014);

⁵Garg et al. (2005);

⁶McDaniell et al. (2006);

⁷Simpson et al. (2011);

⁸Chabriat, Joutel, Dichgans, Tournier-Lasserve, and Bousser (2009);

⁹Joutel et al. (2000);

¹⁰Joutel et al. (1996);

¹¹Joutel et al. (1997);

¹²Gripp et al. (2015);

¹³Lee (2013);

¹⁴Chida et al. (2014);

¹⁵Hassed et al. (2012);

¹⁶Shaheen et al. (2013).