© Laurent FASANO / Xavier CAUBIT / IBDM / CNRS Images



Embryon de souris dont les cellules expriment le gène Tshz3

Mouse embryo in which the cells coloured blue are expressing the gene Tshz3, equivalent to TSHZ3 in humans, which has been identified in patients presenting a syndrome with autistic traits and congenital abnormalities of the urinary system. More specifically, these individuals carry heterozygous microdeletions (a genetic mutation characterised by the loss of genetic material in a chromosome) in the minimal chromosome region 19q12, in which TSHZ3 has been identified as the critical gene. This work demonstrates the coexistence of renal tract defects, whose expression in the embryonic stages could allow early detection and care for patients affected by an autism spectrum disorder (ASD).

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