Stroke
Gene: CTSA
Borderline Green/Amber. 19 individuals reported, but single founder variant, c.973C>T; p.R325C.
Bi-allelic variants in this gene are associated with galactosialidosis.Created: 10 Mar 2021, 2:05 a.m. | Last Modified: 10 Mar 2021, 2:12 a.m.
Panel Version: 0.70
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
Publications
c.973C>T; p.R325C reported in three families, total of 14 individuals;
PMID: 27664989 WES applied in two of these families, confirmed variant segregation with affected status and
features of: leukoencephalopathy, ischemic and hemorrhagic strokes, cognitive deterioration, and therapy-resistant hypertension. Haplotype analysis confirmed shared ancestry b/w 2 families. Dutch ancestry.
Autopsy showed striking endothelin-1 immunoreactivity in white matter astrocytes, consistent with known role of cathepsin A function, to degrade endothelin-1. Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
PMID: 31177426; further 1 case with same variant - British. CARASAL is a primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathyCreated: 10 Mar 2021, 12:49 a.m. | Last Modified: 10 Mar 2021, 12:49 a.m.
Panel Version: 0.70
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cerebral microangiopathy
Publications
Three families reported with the same variant (c.973C > T), and a study mapping the condition to 20q13, where CTSA is located, but no sequencing conducted.
Sources: LiteratureCreated: 11 May 2020, 3:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL)
Publications
Gene: ctsa has been classified as Green List (High Evidence).
Publications for gene: CTSA were set to 27664989; 31177426; 23175731
Tag founder tag was added to gene: CTSA.
Gene: ctsa has been classified as Green List (High Evidence).
Gene: ctsa has been classified as Amber List (Moderate Evidence).
gene: CTSA was added gene: CTSA was added to Stroke. Sources: Literature Mode of inheritance for gene: CTSA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTSA were set to 27664989; 31177426; 23175731 Phenotypes for gene: CTSA were set to Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL) Review for gene: CTSA was set to AMBER