Table 4

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

Study	No of patients	Country	Case ID	Phenotype data provided
*Three cases are included in the United Kingdom cases for the current study;
†Japanese cases included in the current study.
Amano et al³³	2	Japan	Seg014	Genotype data only provided
Uchino et al³¹			Seg024	Uchino adds “had words” only
Amir et al⁶	2	United States of America		Analysed as missense v truncating
Amir et al³⁴
Amir et al¹¹
Buyse et al³⁵
Sung et al³⁶
Wan et al¹⁶
Auranen et al³⁷	3	Finland		Overall milder clinical phenotype; all learnt to walk and developed normally <10 months
			R24	Born 1995; hands: uses purposefully
				No epilepsy; no scoliosis
			R26	Born 1979; walking: until 9–10 years
			R47	Born 1975; obese
Chae et al³⁸	1	Korea		Compared missense and nonsense severity scores
			17	Age: 9 years 3 months
				Hands: grasps briefly
				Speech: a few words
				Walking: walks alone
				Epilepsy; no abnormal respiration
Cheadle et al⁷*	4 includes 2 sisters	United Kingdom	6	Hands: uses spoon/finger feeds/holds a cup or bottle
				Speech: few words, possibly with meaning
				Walking: independently
			10	Hands: grasps or holds briefly
				Speech: few words, possibly with meaning
				Walking: independently
			81	Hands and speech: not available
				Walking: independently
				Non-classical
			84	Hands: uses spoon/finger feeds/holds a cup or bottle
				Speech: understands and says some words
				Walking: independently
Erlandson et al³⁹	1	Sweden		No phenotype data; different case than that reported by Xiang et al⁴⁰
Hoffbuhr et al¹⁵	1	United States of America	R115a	Hands: limited preserved hand use
				Speech: preserved
				Walking: ambulatory
				Decelerated head circumference; seizures
Huppke et al¹³	1	Germany	26	No loss of ability to sit, walk, or speak.
				Head circumference >3rd centile
Laccone et al⁴¹	6			No phenotype data
Trappe et al⁴²	3			No phenotype data; mutations 2 paternal, 1 maternal origin
Inui et al³⁰	2	Japan	3	14 years, no gait apraxia
			7	8 years, no head growth deceleration; no severely impaired language; no severe psychomotor retardation
Milunsky et al⁴³	5	United States of America		Some cases without microcephaly
Nielsen et al¹⁰	1	Denmark	6	Born 1972
				Hand: can hold glass, uses spoon or fork
				Gait: walks independently
				Eye gaze: intense, uses eye pointing
Nielsen et al⁴⁴	1	Denmark	2	Born 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 al^45,⁴⁶	3	Italy/ United Kingdom	N4	No phenotype data provided
			N19	All United Kingdom cases
			N24
Xiang et al⁴⁰	1	Sweden	41	No phenotype data provided
Yamada et al⁴⁷	2	Japan	R02	Diagnosed at 11 years
				Speech: says a few words, possibly with meaning
				Walking: since 17 months
				Epilepsy; no head growth deceleration
			R17	Diagnosed at 17 years
				Speech: none
				Walking: not walking
				Epilepsy
Yamashita et al²⁹†	2	Japan	1	9 years, onset hand stereotypies at 6 years
				Hands: eats with spoon
Kondo and Yamagata⁴⁸†	+5			Speech: short sentences
				Walking: at 7 years could run and inline skate; normal growth
			3	9 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 al³²	2	Italy	368.CR	10 years, no scoliosis; first words >24 months
			307.FR	30 years, no seizures; first words >24 months; >2 word sentences