Table 3
Mutations in the MECP2 gene
| Sex | Clinical description | Exon | Mutation |
|---|---|---|---|
| F | Sat 10 mth, stood 17 mth, mild developmental delay until 9 m, happy baby, bouts of laughter, can finger feed, drinks from a cup, no loss of behavioural skills, hand wrings | 4 | T158M |
| F | No history until chest infection at 8 mth, cannot walk w/o help, not microcephalic, did not lose skills, some hand use, hand wringing | 4 | R168X |
| F | Normal development until 20 mth then regression | 4 | R168X |
| F | Severe learning difficulties, microcephaly, severe epilepsy | IVSIII | 21746C→T |
| M | Mild developmental delay, motor development normal, slow growth <3rd centile | 4 | S194S |
| M | Developmental delay, happy baby, variable tone, squint, HC <3rd centile | 4 | A439T |
