Table 1.
Cerebrovascular and other clinical findings in previously reported patients with variants in SAMHD1.
| Patient | Sex | Ethnicity | Variant(s) | Type | Moyamoya | Aneurysms | History of stroke | Stenosis of cerebral vessels | Other clinical findings |
|---|---|---|---|---|---|---|---|---|---|
| P1 1 | F | British | c.602T>A (p.Ile201Asn) | Homozygous | + | + | + | Basal ganglia calcification, intellectual and physical disability, chilblains | |
| P2 1 | M | African | c.1503+1G>T, Intron 13 | Homozygous | + | + | Intracranial calcification, intellectual and physical disability, hypertonia, glaucoma, chilblains, seizures, cerebral palsy | ||
| P3 1 | F | Canadian | c.427C>T (p.Arg143Cys), c.602T>A (p.Ile201Asn) | Compound heterozygous | + | Basal ganglia and periventricular calcification, white matter abnormalities, intellectual disability, microcephaly, chilblains | |||
| P4 1 | M | Italian | p.Ex12_Ex16del [unconfirmed] | Homozygous | + | Basal ganglia and periventricular calcification, white matter abnormalities, intellectual and physical disability, spastic tetraparesis, hypotonia, microcephaly, chilblains, seizures | |||
| P5 1 | M | Ashkenazi Jewish | c.649insG (p.Phe217Cysfs*2), Deletion of Exon 1 | Compound heterozygous | + | + | White matter abnormalities, intellectual and physical disability, tetraplegic, microcephaly, chilblains | ||
|
| |||||||||
| P1 2 | M | Turkish | c.490C>T (p.Arg164X) | Homozygous | + | Basal ganglia calcification, intellectual and physical disability, dystonia, psychomotor delay, spasticity, glaucoma, cerebral atrophy, cataracts | |||
| P2 2 | M | Turkish | c.490C>T (p.Arg164X) | Homozygous | + | Basal ganglia calcification, microcephaly, dystonia, psychomotor delay, spasticity, glaucoma, chilblains, cerebral atrophy, seizures, cataracts | |||
| P3 2 | F | Turkish | c.490C>T (p.Arg164X) | Homozygous | + | Basal ganglia calcification, psychomotor delay, glaucoma, hypothyroidism, chilblains | |||
| P4 2 | F | Turkish | c.490C>T (p.Arg164X) | Homozygous | + | + | Intracranial calcification, white matter abnormalities, intellectual and physical disability, microcephaly, dystonia, psychomotor delay, spasticity, glaucoma, hypothyroidism, chilblains, cerebral atrophy | ||
|
| |||||||||
| P1 3 | M | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | + | Failure to thrive, chilblains | ||
| P13 3 | M | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | + | Failure to thrive, white matter abnormalities, developmental delay, glaucoma | ||
| P15 3 | F | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | + | Failure to thrive, white matter abnormalities, developmental delay, glaucoma | ||
| P16 3 | M | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | + | Failure to thrive, white matter abnormalities, developmental delay | ||
| P19 3 | F | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | White matter abnormalities, spasticity, cerebral palsy | |||
| P27 3 | M | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | Arthritis | |||
| P28 3 | M | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | Arthritis | |||
| P29 3 | F | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | White matter abnormalities, developmental delay, spasticity, glaucoma, cerebral palsy | |||
| P33 3 | M | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | + | White matter abnormalities, spasticity | ||
| P34 3 | M | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | White matter abnormalities | |||
| P38 3 | M | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | [Newborn with no presenting symptoms, variant found through requested DNA testing] | |||
|
| |||||||||
| P1 4 | M | Turkish | Variant unspecified | Homozygous | + | Basal ganglia calcification, white matter abnormalities, physical disability, dystonia, spasticity, microcephaly, chilblains, epilepsy | |||
|
| |||||||||
| P41 5 | M | Italian | p.Ex12_Ex16del | Homozygous | + | Intracranial calcification, white matter abnormalities, cerebral vasculitis, intracerebral hematoma, intellectual and physical disability, spastic tetraparesis, dystonia, epilepsy | |||
|
| |||||||||
| P1 6 | F | Old Order Amish | c.1411–2A>G (Intron 12) | Homozygous | + | + | + | Basal ganglia calcification, white matter abnormalities | |
|
| |||||||||
| Our patient | M | Belgian | c.676C>T (p.Arg226Cys), c.1608+2T>C (Intron 14) |
Compound heterozygous | + | Mitral valve rupture, mitral regurgitation | |||