Table 2

 Summary of the clinical signs presented by male patients having a mutation in the MECP2 gene

MutationMicResRegSteScoAgeMROther clinical detailsRef
Age, age at last evaluation; Mi, mild; Mic, microcephaly; Mo, moderate; MR, degree of mental retardation; Reg, regression; Res, respiratory dysfunction; S, severe; Sco, scoliosis; SNE, severe neonatal encephalopathy; Ste, stereotypies; U, not present in all patients of a series.
Missense mutations
    R133CYesYesYesYesYes11 yearsSRigidity of four limbs, dystonic posture, early convulsionsGeerdink et al10
    S134CYesYesYesYesYes10 yearsSAxial and peripheral hypotonia, rigidity of four limbs, seizuresBudden et al11
    E137GUNoU21–56 yearsMi to SNo neonatal hypotonia, speech handicap (U)Gendrot et al41
    A140VNoNo27–40 yearsSResting tremor, slow movementsOrrico et al13
    A140VMi to SNo details givenCouvert et al12
    A140VNoNoU11–41 yearsMo to SPsychosis, pyramidal signs, macro-orchidism, short stature (U)Lindsay S et al42
    F157IYesYes25 monthsSNELimb rigitity, axial hypotonia, movement disorder, head growth decelerationKankirawatana et al15
    T158MYes9–11 monthsSNEPepper and salt hairVillard et al16
    T158MYesYesYesYes14 monthsSNELimb spasticity, choreiform movementsLynch et al17
    R167WYesNo17–55 yearsMiFour cases, obesity, poor motor coordination, resting tremorCouvert et al12
    P225LNoYesYes21 yearsSAbnormal temperature control, spastic tetraplegia, dystonia, epilepsy until 7 yearsMoog et al18
    P322SNoYes6 yearsMoAdiposity, uncontrolled seizures, hypotonia, lower limb weakness, intention tremor, ataxiaVentura et al19
    R344WRett-like phenotype (no details given)Laccone et al20
    P405LNoNoNoYesNo29 yearsSNo spasticity, can walk, generalised epilepsyMoog et al21
    K417MYesYes14 monthsHead growth deceleration, movement disorderKankirawatana et al15
    R453QNo details givenCouvert et al12
In-frame deletions
    P387del80No24–55 yearsMi to SNo tremorGomot et al43
Frameshifts and nonsense mutations
    G163fsYesYes13 monthsSNEPepper and salt hair, limb rigidity, seizuresGeerdin et al23
    G252fsYesYesYes17 monthsSNESevere hypotonia, recurrent infectionsZeev et al24
    G269fsYesYes9 monthsSNEAxial hypotonia, severe gastro-oesophageal reflux, intermittent tremorSchanen et al8
    G269fsYesYesYes28 monthsSNEUncontrolled seizures, axial hypotonia, limb rigidityLeuzzi et al25
    G269fsYesYesYes27 monthsSNENo limb rigidity, axial hypotonia, movement disorderKankirawatana et al15
    R270fsYesYes14 monthsSNEAxial hypotonia, no limb rigidityKankirawatana et al15
    G273fsYesYesYes11 yearsSAtaxia, spasticity, uncontrolled seizuresLugtenberg et al26
    L386fsYesYesYesNo4 yearsSIntention tremor, axial hypotonia, seizuresDayer et al27
    Q406XNoYes34 yearsSAtaxia, spasticity, convulsions, macrocephaly, death at 39 from pneumonia, recurrent infectionsMeloni et al28
    E472fsYesYes10 yearsMoObesity, gynaecomastia, hypotoniaKleefstra et al29
Large duplications
    430 kbNoNoYesYesNo8 yearsSUncontrolled generalised epilepsy, no spasticityMeins et al30
    0.4–0.8 MbUYes3–35 yearsSRecurrent infections, early death (U), progressive spasticity, axial hypotonia (U), seizures (U)Van Esch et al31
    0.4–0.8 MbUYes3–25 yearsSRecurrent infections, early death (U), neonatal hypotonia, childhood spasticity, seizures (U)Friez et al32
    0.2–2.2 MbUNoU3 months–16 yearsRecurrent infections (U), axial hypotonia, childhood spasticity, genital abnormalities (U)Del Gaudio et al33
Abnormal karyotypes
    Y141X/XXYYesYes5.5 yearsSHypotoniaSchwartzman et al34
    T158M/XXYNoYesYesYes9 yearsSA brother with del22q11Leonard et al35
    E455X/XXYesYes2 yearsSSRY translocated on one X chromosomeMaiwald et al36
Somatic mosaicism
    P56fsNoYesYesNoYes6 yearsSSeizures, truncal hypotonia, ataxic gaitClayton-Smith et al37
    R133H14 yearsSTypical RTT phenotype (no details given)Armstrong et al38
    T158MYesYesYesYes11 yearsSConvulsions and diffuse EEG abnormalitiesKleefstra et al39
    R270XYesNoYesYesYes12 yearsSPoor lower limb musculature, hypertoniaTopcu et al40