Can boys have Rett syndrome?

Boys can also develop Rett syndrome. The main causative gene, MECP2, is located on the X chromosome (Xq28), and the majority of mutations come from the paternal X chromosome, so the majority of patients are girls. However, there are cases in which boys are affected. The possibility of Rett syndrome is considered when boys have symptoms associated with the disease, such as decreased intelligence, speech, hand function, and motor skills.

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