r/ClinicalGenetics • u/tomsono1 • 11d ago

can it be

in hdac4 deletion exoms 4-8 and mmachc both heterozygoteus but have disorder even mmachc is probably active. is there possible to not absorb vitamins from group b? also is is krebs cycle the same test as gas chromatography wit method I dont remember but I think it was 3letter word ngs maybe? and what krebs cycle test shows? is it really that rare. is it calculated or usually mistaken for multiplevsclerosis. I checked in dictionary so not sure. what is real number of it occurence. it differs from source.

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u/perfect_fifths 11d ago

Oooh I have a question on this, not related but semi related. HDACs are affected by trps1 haploinsufficiency, and represses runx2 and that’s why TRPS patients have cone shaped epiphyses and other skeletwl effects.

Now it’s not the same as a deletion of a gene but does it also mean there are some overlapping symptoms such as brachydactyly, short stature etc?

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u/tomsono1 11d ago

not exactly. I had atypical disorder. It got me in psychiatric metabolical and neurological department. family rather muscle and bones. none of us has this typical symptoms. even rarer because probably it is not de novo and in male line. unfortunately I cant find medical website I found this info on.

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u/perfect_fifths 11d ago edited 11d ago

Right but typically I believe it does cause brachydactyly and skeletal issues which is why I was wondering if there’s some overlap between TRPS and HDAC4 related disorders since TRPS haploinsufficiency affects HDACs, such as HDAC4

From a clinical journal:

The interaction with Trps1 increases the abundance and nuclear localization of Gli3A and Hdac4

Trps1 enhances Hdac4-mediated repression of Runx2

Trps1 regulates protein levels independent of PKA and PP2a activity

Trps1 interacts with Gli3A predominantly in proliferating chondrocytes, whereas Trps1 complexes with Hdac4 are enriched in prehypertrophic chondrocytes

It isn’t the same as a gene deletion, but I would think there would be a little bit of overlap between the two given hdac4 is affected in both, just with different mechanisms etc

From what I understand, the two usually feature the same symptoms such as:

Brachydactyly

Skeletal Anomalies: Cone-shaped epiphyses (abnormal bone growth ends) and short stature

Craniofacial Features

But then different outside of that.

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u/tomsono1 11d ago

my mistake. it supposed to be had