How It's Diagnosed

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Observation

Check the common traits of Smith Kingsmore Syndromes, such as large head, developmental delay, and face similarity.  Some brain abnormalities might not become obvious until age 1 or 2.  Autism may start sometime between infancy and toddler ages, and seizures may or may not start until later in their life.  There are many variation (codon) of mTOR, and even with the same mutation variation, the combination and severity of symptoms vary widely.   If you suspect of an mTOR mutation, ask your doctors to try a genetic testing of either an "overgrowth panel" or checking entire DNAs.  Thanks to efforts of Dr. Kingsmore, entire DNA reading of a blood sample can bring a results within 36 hrs as of 2021, and tests are done even on newborns.

The earlier the diagnosis, the earlier you can start optional treatments. 

A skin test may be required if a patient has both affected and unaffected cells like Elizabeth does (Mosaicism)  Please see bellow for Diagnosis for Mosaicism.

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Diagnosis of Mosaicism

mTOR mutation has  some cases of mosaicism and Mosaicism makes diagnosis tricky. Mosaicism happens when mutation or mistake in gene copying happens after conceiving,  Of those cases, Elizabeth's variation and another variation has only Mosaicism and her variation has the second largest number of patients in mTOR mutations.

 

At first, Elizabeth's genetic blood test came back negative between 2015 and 2017.  Then in 2018, her doctors together with Undiagnosed Diseases Network made a breakthrough.  They paid attention to her birthmarks*, and did a WES DNA testing on her darker skin and normal skin samples.  The result was mTOR mutation found only on her darker skin, and she was diagnosed as the 4th patient of the variation in the world.  Within 1-2 year of of publication of her case, 4 more have been diagnosed by skin.  If the patient is older and the birthmark have disappeared, UV light can be used to find old birthmarks.  I believe all have the birth marks, but the blood test worked on the first 3 patients, and Mosaicism can happen without the birthmarks, too.

 

The doctor Mirzaa later tested on her nail, saliva, and hair, and  found minute amount of mutation in some of the samples.

* The birth mark examples are Blaschko lines, hypomelanosis of Ito, or cafe-au-lait spots

MosaicPothos.jpg

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