Description:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1
NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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Family Member
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3
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Family History
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Y
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Relation to Proband
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sister
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
NOTCH3 |
| Chromosomal Location |
19p13.12 |
| Allelic Variant 1 |
p.Arg141Cys; CADASIL |
| Identified Mutation |
ARG141CYS; Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive disorder of the small arterial vessels of the brain manifest by migraine, strokes, and white matter lesions, with resultant cognitive impairment in some patients. |
| Remarks |
Asymptomatic for CADASIL at time of sampling; diagnosed at 30 years of age by a geneticist; no symptoms of stroke; sharp head pain lasting about 30 seconds at a time; dizziness; palpitations; headaches; back pain; fatigue; night sweats; numbness in legs when crossing them; numbness in arms when they hang; hyperreflexia; hyperlipidemia; high testosterone levels; thyroid cancer; polycystic ovarian syndrome; unintentional weight gain; eye pain; ear pain and nasal congestion; no symptoms of migraines, dementia, cognitive impairment, seizures or other neurological issues; no behavioral issues; MRI of the brain revealed moderate periventricular white matter disease with numerous white matter lesions and ischemic gliosis greater than expected for age – characteristic of CADASIL; positive sequencing test for CADASIL; sequencing of exon 4 of the Notch3 gene demonstrated a heterozygous mutation: 499C>T (ARG141CYS); medication: Synthroid, Metformin HCl; surgeries: 3 C-sections; removal of cancerous thyroid; family history: is daughter of deceased affected mother (not in repository) and has two affected sisters (GM27158 and GM27171, lymphs); mother and sisters tested positive for CADASIL; mother had a history of recurrent strokes, leukoencephalopathy, lung cancer, and transient ischemic attack, and passed away in her 60’s; father had lung cancer; sister had strokes in her forties; both sisters have the same CADASIL mutation, 499C>T (ARG141CYS) in Notch3. |
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