Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.
Chi Wai Wong, Penelope Mei Yu Or, Yubing Wang and 10 others
PMID 29608813WHAT IT FOUND
Three of thirteen Hong Kong patients with autism, developmental delay or macrocephaly carried PTEN mutations.
In cells, the I101T mutation made less stable PTEN, reduced phosphatase activity and lowered nuclear localization. This is a molecular finding, not a treatment result.
Key findings
01PTEN mutations were found in patients referred with autistic features, developmental delay, or macrocephaly.
02The I101T PTEN mutant was reduced by 4-fold in PC3 cells and 2.5-fold in 293T cells compared with wild-type PTEN.
03In cultured cells, I101T retained about 30% of wild-type lipid phosphatase activity and showed a 75% decrease in nuclear-to-cytosol distribution.
STILL TO COME
How it was doneWhat they found
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What it does not show
The clinical part is a case series of 13 referred patients, not a controlled treatment study. The functional findings come from cell lines and overexpression, not from patient neurons or clinical outcomes. The paper reports genetic and laboratory findings, not patient outcomes after treatment. The laboratory work focused mainly on the I101T mutant, so the other PTEN mutations were not characterized in the same detail.
Declared interests
The authors declared no conflicts of interest.
The easy way to misread this
Do not read the reduced PTEN activity as proof that a therapy targeting PTEN will help autism. The study only describes patients and tests mutant proteins in cell lines, with no treatment or clinical outcome measure.