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Our results demonstrate high concordance with published guidelines for identifying *MECP2* mutation carriers, with one exception: a boy with neonatal seizures but normal developmental outcome and a mild decelerated developmental quotient was found to have a de novo mutation in the MECP2 gene. We also screened parents of one child with the confirmed MECP2 mutation, as well as the rest of the family members, and data from five control subjects without neurological disease. Here we describe our exome sequencing strategy in a cohort of 102 index cases, of which half had children who were screened for the MECP2 mutation.
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