Aicardi-Goutieres syndrome 5
| Disorder | |
|---|---|
| OMIM #: | #612952 (Click to access OMIM database) |
| Disorder: | Aicardi-Goutieres syndrome 5 |
| Also known as: | AGS5 SAMS (cerebral vasculopathy characterized by multifocal stenosis and aneurysms within large arteries, moyamoya, chronic ischemia, and early-onset strokes) |
| Clinical | |
| Phenotype: | microcephaly, mouth ulcers, feeding difficulties, arthropathy, contractures, chilblains, dermatitis, ichthyosis, developmental delay, encephalopathy, truncal hypotonia, spasticity, intracerebral calcifications |
| 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. Autosomal recessive |
| 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: | 2023-02-01 |
| References |
|---|
| Aikman I, Makowski K, Wenger O, Rossman I, Solomon JD. (2020) Microcephaly, Hypotonia, and Intracranial Calcifications in an 11-Week-Old Boy. Pediatrics Sep;146(3):e20192795. PubMed ID: 32820067 |
| Brar JS, Verma R, Al-Omari M, Siu VM, Andrade AV, Jurkiewicz MT, Lalgudi Ganesan S. (2021) Moyamoya Syndrome in an Infant with Aicardi-Goutières and Williams Syndromes: A Case Report. Neuropediatrics doi: 10.1055/s-0041-1739131. PubMed ID: 34852373 |
| 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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