what is the genetic mutation PIGQ?
In: Biology
PIGQ isn’t a mutation. It’s a gene. NIH keep an online database on genes here: https://www.ncbi.nlm.nih.gov/gene/9091
Some proteins in our cells must be anchored to cell membranes to carry out their function correctly. Per the database, PIGQ encodes a protein responsible in part for making those anchors.
You would expect a mutation in PIGQ to affect a lot of different cell processes therefore. It looks like disruptions to the gene are associated with neurological development disorders. This paper https://pubmed.ncbi.nlm.nih.gov/34089469/ mentions a patient with “neurodevelopmental disorder characterized by nonprogressive congenital ataxia, intellectual disability, generalized epilepsy, and cerebellar atrophy” and summarises previous findings thus: “Pathogenic variants in the PIGQ gene have been previously reported in 10 patients with congenital hypotonia, early-infantile epileptic encephalopathy, and premature death occurring in more than half cases.”
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