GeneChat

CADSIL DISEASE -NOTCH3 Mutations

livewello

#1

NOTCH3 (CADASIL)
SNP rsID Minor Allele Genotype Phenotype
NOTCH3 rs10408676 T CC -/-
NOTCH3 rs1043996 G GG +/+
NOTCH3 rs1044123 G GG +/+
NOTCH3 rs115582213 T CC -/-
NOTCH3 rs147373451 C TT -/-
NOTCH3 rs16980398 G AA -/-
NOTCH3 rs2074616 C CC +/+
NOTCH3 rs2238643 T TT +/+
NOTCH3 rs2285981 T CC -/-
NOTCH3 rs35793356 A GG -/-
NOTCH3 rs3815188 A GG -/-
SNP? rs112197217 - GG NF
Legend
-/- Neither chromosome carries a genetic variation.
(Green does not mean “normal”. It only means that the genotype does not contain the less common allele.)

+/- Heterozygous i.e a chromosome from one parent, carries a variation
(Yellow does not mean “abnormal”. It only means that the genotype contains 1 copy of the less common allele.)

+/+ Homozygous i.e a chromosome from each parent carries a variation.
(Red does not mean “abnormal”. It only means that the genotype contains 2 copies of the less common allele.)


#2

Holy cow, I have a lot of yellows there but only one red. We do not have cerebral infarcts although my mom did have TIAs for a period of time. My tiny stroke was caused by a blood clot that got through a tiny hole in my heart.


#3

But here are all the symptoms of CADASIL that fit with me ++

Agnosia!

Aphasia!

Semantic dementia!

Prosopragnosia!

Weakness of arms and legs!

And weakness, falling on one side of the body (me always on the left)!

Migraines! (and an optician 6 months ago, testing my eyes, said I seem to have migraines all the time, without the pain most people have, just pressure in the eyes and brain)

TIAs, strokes!

Seizures!

And the small blood vessels, that causes these damages!!

White matter damage!

Also can relate to Parkinsonism

I still have not had my 100,000 Genomes Project – since 18 months! But looking up my Notch3 mutations on my exome (sequenced by Genos) I definitely have rs10423702+++, rs1044006+, rs1044009++, rs10422818+, rs1043994+++, rs1043996+, rs1043997+++, rs4809030++ - some are doubles, and some are one variation – and they are always said to relate to CADASIL damage…And there are another 20 mutations I have, that I can tell you too…