“We’re totally in love with this young princess”
Cerebral Palsy, microphthalmia in left eye (small or incompletely formed eye), anophthalmia in right eye (missing eye)and a recently discovered gene mutation in retinoic acid receptor beta (RARB) gene. Chromosone 3, located in exon 8.
In 2017 Sophia had a tractional detachment in her one good eye, the doctor had to removed 30% of her retina due to a large amount of scar tissue embedded in it, performed a posterior proliferative vitreoretinopathy and a 360 retinectomy to open up the retina. Used silicone oil to help the retina attach and heal. Advised it was a combined tractional/ rhegmatogenous detachment. Unfortunately Sophia eye didn’t recover and she is now blind.
Sophia has a retinoic acid receptor beta (RARB) gene alteration in Chromosone 3, located in exon 8. Formally seen as c.1159C>T (p.R387C) in which the Cytosine was replaced by Thymidine in nucleotide 1159 causing Arginine (R) at amino acid position 387 to be replaced by a Cysteine. RARB is a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. The receptor localizes to cytoplasm and subnuclear compartments. It binds retinoid acid, the biologically active form of Vitamin A which mediates cellular signaling in embryonic morphogenesis, cell growth and differentiation. It is believed that this protein limits the growth of many cell types by regulating gene expression. Due to the amino acid alteration, there is a 2 to 3 fold increase in RARB transcriptional activity which suggests a gain of function and functional analysis in transfected HEK293 cells demonstrate transcriptional response to retinoid acid is significantly increased, reaching a 28 fold induction for R387C versus a 9 fold for wild type RETINOIC ACID RECEPTOR BETA.
UPDATED NAME FOR RETINOIC ACID RECEPTOR BETA:
MCOPS12 is an ultra-rare neurological disease caused by a mutation in the retinoic acid receptor beta (RARB) gene. Common phenotypes are microphthalmia, severe movement and speech disorders and intellectual disability.
For you researchers out there, it seems to me if we can reduce transcriptional response to retinoid acid thereby suppressing the gain of function, could we then potentially see an improvement in her spasticity or other organs that have been compromised due to this gene mutation since she is still developing? Let me know what you need to run any tests and I will happily jump on that band wagon if it is at all possible!
Born - Oct 10, 2007 @ 7:46 AM
Location - Laguna Beach, CA
Weight - 6 lbs 9 oz / Length - 19.5”
So many of you have asked how can I help, We have set up a special account through “PayPal” it cover the many expenses that are an everyday occurrence as we must purchase much-needed specialized equipment, specific learning tools, hire specialists or a surprise medical expense for Sophia and or medical bills that aren’t covered by her insurance. (NOT A 501c3 NON PROFIT DONATION)