GM27172

GM27172 LCL from B-Lymphocyte

Description:

CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1
NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3

Affected:

At Risk

Sex:

Female

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family Member

Family History

Relation to Proband

sister

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

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.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

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.