UDN Project

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School

Middlesex Community College *

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Course

231

Subject

Biology

Date

Dec 6, 2023

Type

pptx

Pages

6

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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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