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Dec 6, 2023
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Detectives of Undiagnosed
Disease Project :
Participant 209
Hailey Carlson
QUESTION 1 :
What type of symptoms did your patient have?
My patient has an autism spectrum disorder, cognitive impairment, facial feature differences, and low
muscle tone caused by a change in the
MRTFB
gene. Other symptoms include :
-Underdevelopment of eye sockets, cheekbones, and upper jaw
-Skin fold of the upper eyelid
-Downward slanting of eyes
-Low set ears rotated backwards
-Nose differences
-Flat/low nasal bridge
-Speech apraxia
QUESTION 2 :
What genetic mutation was
observed? What change occurred at the protein
level?
The gene that was mutated was MRTFB also known as MKL2. This
gene acts as a “transcriptional coactivator of serum response factor
(SRF). Required for skeletal myogenic differentiation” (Uniprot.org).
In the case for patient 209, the protein that changed was
Ala91Pro. Chromosome 16 was effected. The subcellular location is
in the nucleus.
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Done
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