YWHAE

A deletion of genetic material near the end of the short (p) arm of chromosome 17 causes Miller-Dieker syndrome. This region contains numerous genes, including the YWHAE gene. Miller-Dieker syndrome is characterized by intellectual disabilities and developmental delays that are caused by an abnormally smooth brain that does not have the normal folds and grooves (lissencephaly).

As a result of the deletion, people with Miller-Dieker syndrome have only one copy of the YWHAE gene in each cell instead of the usual two copies. A deletion of one copy of the YWHAE gene in each cell reduces the amount of available 14-3-3 epsilon protein. In people with Miller-Dieker syndrome, a shortage of 14-3-3 epsilon protein contributes to severe lissencephaly.

Other deleted genes in the same region of chromosome 17 likely contribute to the other features of Miller-Dieker syndrome.

MedlinePlus Genetics provides information about Schizophrenia

Variants that only affect the YWHAE gene have been reported in a few families. Some of these variants disrupt the way the gene's instructions are used to make the 14-3-3 epsilon protein, while others delete some or all of the YWHAE gene. These variants have been associated with weak muscle tone (hypotonia), developmental delays, delayed speech, seizures, and brain abnormalities.