Amish, Mennonite, and Hutterite
Genetic Disorder Database

Aicardi-Goutieres syndrome 5

Disorder
OMIM #: #612952  (Click to access OMIM database)
Disorder: Aicardi-Goutieres syndrome 5 
Also known as: SAMS (cerebral vasculopathy characterized by multifocal stenosis and aneurysms within large arteries, moyamoya, chronic ischemia, and early-onset strokes) 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

du Moulin et al. argue that the condition described by Xin et al. is a heterogeneous group of Old Order Amish individuals with Aicardi-Goutieres syndrome and intracerebral arteriopathy. 

Mutations
Referencesdu Moulin M, Nürnberg P, Crow YJ, Rutsch F. (2011) Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations. Proc Natl Acad Sci USA 108(26):E232.
PubMed ID: 21633013
Gurion R, Nwankwo C, Nanda K, Brooks EB, Mitchell AL, Wiznitzer M, Robinson AB. (2013) A 4-year-old Amish boy with weakness, arthritis, rash, verbal delay, and failure to thrive. Arthritis Care Res Sep;65(9):1539-47.
PubMed ID: 23554266
1   Amish  
Gene: SAMHD1
Base Change: c.1411-2A>G
Amino Acid Change: p.Glu471_Asp501del
Last updated: 2019-01-17 

References
du Moulin M, Nürnberg P, Crow YJ, Rutsch F. (2011) Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations. Proc Natl Acad Sci USA 108(26):E232.
PubMed ID: 21633013 
Gurion R, Nwankwo C, Nanda K, Brooks EB, Mitchell AL, Wiznitzer M, Robinson AB. (2013) A 4-year-old Amish boy with weakness, arthritis, rash, verbal delay, and failure to thrive. Arthritis Care Res Sep;65(9):1539-47.
PubMed ID: 23554266 
Henrickson M, Wang H. (2017) Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation. Clin Rheumatol Jun;36(6):1445-1451.
PubMed ID: 28289923 
Xin B, Jones S, Puffenberger EG, Hinze C, Bright A, Tan H, Zhou A, Wu G, Vargus-Adams J, Agamanolis D, Wang H. (2011) Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci USA Mar 29;108(13):5372-7.
PubMed ID: 21402907 

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