Table 4

References to the MECP2 R133C mutation in Rett syndrome in published reports

StudyNo of patientsCountryCase IDPhenotype data provided
*Three cases are included in the United Kingdom cases for the current study;
†Japanese cases included in the current study.
Amano et al332JapanSeg014Genotype data only provided
Uchino et al31Seg024Uchino adds “had words” only
Amir et al62United States of AmericaAnalysed as missense v truncating
Amir et al34
Amir et al11
Buyse et al35
Sung et al36
Wan et al16
Auranen et al373FinlandOverall milder clinical phenotype; all learnt to walk and developed normally <10 months
R24Born 1995; hands: uses purposefully
No epilepsy; no scoliosis
R26Born 1979; walking: until 9–10 years
R47Born 1975; obese
Chae et al381KoreaCompared missense and nonsense severity scores
17Age: 9 years 3 months
Hands: grasps briefly
Speech: a few words
Walking: walks alone
Epilepsy; no abnormal respiration
Cheadle et al7*4 includes 2 sistersUnited Kingdom6Hands: uses spoon/finger feeds/holds a cup or bottle
Speech: few words, possibly with meaning
Walking: independently
10Hands: grasps or holds briefly
Speech: few words, possibly with meaning
Walking: independently
81Hands and speech: not available
Walking: independently
84Hands: uses spoon/finger feeds/holds a cup or bottle
Speech: understands and says some words
Walking: independently
Erlandson et al391SwedenNo phenotype data; different case than that reported by Xiang et al40
Hoffbuhr et al151United States of AmericaR115aHands: limited preserved hand use
Speech: preserved
Walking: ambulatory
Decelerated head circumference; seizures
Huppke et al131Germany26No loss of ability to sit, walk, or speak.
Head circumference >3rd centile
Laccone et al416No phenotype data
Trappe et al423No phenotype data; mutations 2 paternal, 1 maternal origin
Inui et al302Japan314 years, no gait apraxia
78 years, no head growth deceleration; no severely impaired language; no severe psychomotor retardation
Milunsky et al435United States of AmericaSome cases without microcephaly
Nielsen et al101Denmark6Born 1972
Hand: can hold glass, uses spoon or fork
Gait: walks independently
Eye gaze: intense, uses eye pointing
Nielsen et al441Denmark2Born 1970; preserved speech variant
Hands: uses hands for eating and drinking
Speech: lost speech at 5 years, regained at 6 years at poorer level (short sentences)
Walking: relatively effortlessly
Head circumference normal; no scoliosis or kyphosis
Vacca et al45,463Italy/ United KingdomN4No phenotype data provided
N19All United Kingdom cases
Xiang et al401Sweden41No phenotype data provided
Yamada et al472JapanR02Diagnosed at 11 years
Speech: says a few words, possibly with meaning
Walking: since 17 months
Epilepsy; no head growth deceleration
R17Diagnosed at 17 years
Speech: none
Walking: not walking
Yamashita et al292Japan19 years, onset hand stereotypies at 6 years
Hands: eats with spoon
Kondo and Yamagata48+5Speech: short sentences
Walking: at 7 years could run and inline skate; normal growth
39 years, preserved speech variant, onset hand stereotypies at 5 years
Hands: hand function relatively preserved
Speech: speaks 3–4 words
Walking: unsupported
onset of epilepsy at 7 years, no microcephaly
Zappella et al322Italy368.CR10 years, no scoliosis; first words >24 months
307.FR30 years, no seizures; first words >24 months; >2 word sentences