a-surprising-link-between-schizophrenia-and-a-malformation-of-the-skull

A surprising link between schizophrenia and a skull malformation

December 14, 2024

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According to a study conducted by a team of researchers at St. Jude Children's Research Hospital in the United States, DiGeorge syndrome, which most often results in a malformation of the skull, is linked to a greater risk of developing schizophrenia.

A link between a genetic risk of schizophrenia and a skull malformation

A link between a genetic risk of schizophrenia and a skull malformation

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Researchers from St. Jude Children's Research Hospital in the United States have published a study in the journal Nature Communications, revealing a potential link between 22q11.2 deletion syndrome (more commonly known as DiGeorge syndrome or velo-cardio-facial syndrome) and a greater risk of developing schizophrenia (see box below).

22q11.2 deletion syndrome is a chromosomal abnormality affecting 1 in 2,148 births, making it the most common gene deletion (or suppression) in humans. It most often results in cardiac or facial malformations, developmental delay, and immunodeficiency. Most of the deletions that result from this syndrome involve the Tbx1 gene, which is involved in cardiac, facial, and parathyroid development.

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