Disease: Myopathic Ehlers-Danlos Syndrome (mEDS)

Patient(s): 47 yo male, japanese descent

Variant: COL12A1 NM_004370.6: c.395-1G>A (Homozygous variant, at splice acceptor site in exon 6, causes in-frame skipping)(located in the genomic region encoding the first von Willebrand factor A domain)

Family: consanguineous parents with no related features of mEDS, healthy older brother

Phenotypes (Childhood): hypotonia, weak spontaneous movements, scoliosis, torticollis, soft plams, undescended testes, motor developmental delay, slender build, triangular face, short palpebral fissures, small nose, small mouth, large ears, bilateral knee dislocations, short stature.

Phenotypes (Adulthood): short stature, high palate, hypermobile small joints, deformed cervical spine, brachycephaly, bilateral long deformed 5th finger, severe scoliosis post surgical fixation, asymmetric pelvis

Classification: sequencing panel found the variant and it was confirmed through sanger sequencing.

According to ClinGenSVI recommendation: PVS1_Strong

Applicable criteria:

1) the one at a GT-AG 1,2 splice site

2) the one exerting exon skipping or use of a crypic splice site that preserved the reading frame.

3) the one at a truncated/altered region critical to protein function; was classified as PM3_Supporting (homozygous)

Variant not registered in gnomAD (PM2_Supporting)

Partial defect of first vWA in collagen XII judged as PS3

• for: absent father, father - child relation

Supermarkets short of supply as up to half of truck drivers absent due to COVID. (2022, January 6). ABC News. https://www.abc.net.au/news/2022-01-06/supermarket-shortage-supply-chain-truck-driver-covid/100741392

COVID-19 and the Labor Market. (n.d.). IZA – Institute of Labor Economics. Retrieved October 10, 2020, from https://covid-19.iza.org/publications/dp13595/

COVID-19 and the Labor Market. (n.d.). IZA – Institute of Labor Economics. Retrieved October 10, 2020, from https://covid-19.iza.org/publications/dp13578/

For as important as student government seems to be at UVA, I am surprised it is not mentioned more explicitly. Perhaps this was a quality of UVA that came later. I think that Uva is somewhat centered around student governance - however good or bad it may be - and because it is used as such a defining aspect and selling point I was really expecting it to be more present in a document as crucial to the foundation of the university as this one. I would not have thought it would come alter and just be added in to the university's important qualities list. Jefferson also already had clearcut plans for the Academic Village and where certain buildings and facilities were to be placed as outlined in this report. This is another central quality to UVA and it exists right here from the start. Where is the concept of student government?

See Drew Leder's The Absent Body.

There might be some really fascinating intersections with his phenomenological investigation of disembodiment.