Researchers from the Developmental Biology Institute of Marseille and the University of Manchester have identified a link between autism spectrum disorder and abnormal kidneys in children born with a deleted TSHZ3 gene. Their gene research study findings were published September 26 in the journal Nature Genetics.
The TSHZ3 gene region is critical for a syndrome associated with heterozygous deletions at 19q12-q13.11. This syndrome includes autism spectrum disorder. The researchers for this study discovered a patient with this gene deletion who was born with abnormal kidneys and who displayed autism spectrum disorder behaviors. They then reviewed past research in mice and discovered that the mice with this gene deletion not only had kidney problems but also ASD-like learning difficulties. A global search of kidney clinics was then done which found 10 more patients with similar symptoms of abnormal kidneys and autism spectrum disorder behaviors where genetic testing subsequently revealed the deletion of the TSHZ3 gene. The researchers concluded that their gene research findings demonstrate how the TSHZ3 gene is essential for brain cerebral cortical projection neuron (CPN) development and function.
Sources: Genengnews.com (Genetic Engineering & Biotechnology News), Sept. 27, 2016.
Nature.com: “TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons,” Sept. 26, 2016.