16pdel lipid changes in iPSC-derived neurons and function of FAM57B in lipid metabolism and synaptogenesis.

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This study found that a gene called FAM57B, located in the 16p11.2 deletion region, plays an important role in brain cell function by controlling fat (lipid) levels in nerve cell membranes, and when this gene is missing or reduced, it disrupts brain cell connections and activity in ways that may contribute to epilepsy, autism, and intellectual disability seen in 16p11.2 deletion syndrome.