Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Leonard, Helen; Colvin, Lyn; Christodoulou, John; Schiavello, T; Williamson, Sarah; Davis, Mark; Ravine, David; Fyfe, Sue; Klerk, Nicholas de; Matsuishi, Toyojiro; Kondo, Ikuko; Hackwell, S; Yamashita, Yushiro

doi:10.1136/jmg.40.5.e52

Cited by 77 publications

(80 citation statements)

References 41 publications

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“…Most acquired an independent gait (94.1%), but this was both ataxic and rigid; they regressed at a median age of 18 months (13-26), and 52.9% had epilepsy. Their median severity score was 11 (range, [8][9][10][11][12][13][14]; 68.8% of the patients with this presentation had missense mutations, particularly T158M.…”

Section: Clinical Presentation Among Mecp2 Positive Rtt Patients (Gromentioning

confidence: 99%

“…Epilepsy was present in 70.4% of the cases. Among patients with the severe form, 81,4% had truncating mutations, and all but one with the R168X mutation presented it; they showed a median severity score of 15 (range, [12][13][14][15][16][17][18][19][20].…”

Section: Clinical Presentation Among Mecp2 Positive Rtt Patients (Gromentioning

confidence: 99%

“…Table 2 Clinical characteristics of patients with the seven most frequent mutations. 11 (7)(8)(9)(10)(11)(12)(13)(14) 7.5 (4-11)…”

Section: Clinical Features: Redefining Mecp2 Positive and Negative Rttmentioning

confidence: 99%

“…Concerning the phenotype of specific mutations, several studies [14][15][16][17] showed that patients with the R133C and R306C mutations have better overall function. In general, the most severe outcomes were found with the R270X and R255X mutations [11,16].…”

Section: Introductionmentioning

confidence: 99%

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Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Temudo

Santos

Ramos

et al. 2011

Brain and Development

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Background: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and methods: We analyzed 87 patients fulfilling the clinical criteria for RTT. All were observed and videotaped by the same paediatric neurologist. Seven common mutations were considered separately, and associated clinical features analysed. Results: Comparing Group I and II, we found differences concerning psychomotor development prior to onset, acquisition of propositive manipulation and language, and evolving autistic traits. Based on age at observation, we found differences in eye pointing, microcephaly, growth, number of stereotypies, rigidity, ataxia and ataxic-rigid gait, and severity score. Patients with truncating differed from those with missense mutations regarding acquisition of propositive words and independent gait, before the beginning of the disease, and microcephaly, growth, foot length, dystonia, rigidity and severity score, at the time of observation. Patients with the R168X mutation had a more severe phenotype, whereas those with R133C showed a less severe one. Patients with R294X had a hyperactive behaviour, and those with T158M seemed to be particularly ataxic and rigid. Conclusion: A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II.

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Section: Clinical Presentation Among Mecp2 Positive Rtt Patients (Gromentioning

confidence: 99%

Section: Clinical Presentation Among Mecp2 Positive Rtt Patients (Gromentioning

confidence: 99%

“…Table 2 Clinical characteristics of patients with the seven most frequent mutations. 11 (7)(8)(9)(10)(11)(12)(13)(14) 7.5 (4-11)…”

Section: Clinical Features: Redefining Mecp2 Positive and Negative Rttmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Temudo

Santos

Ramos

et al. 2011

Brain and Development

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“…To date, more than 200 different pathogenic MECP2 mutations have been identified and there appears to be considerable variation in phenotype. Some mutations (p.R270X and p.R255X) are associated with a severe clinical presentation and some (p.R294X and p.R133C) with a milder phenotype [3][4][5][6][7][8].…”

Section: Introductionmentioning

confidence: 99%

Sleep problems in Rett syndrome

Young

Nagarajan

Klerk

et al. 2007

Brain and Development

120

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Rett syndrome (RTT) is a severe neurological disorder, affecting mainly females. It is generally caused by mutations in the MECP2 gene. Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history. An Australian population-based registry of cases born since 1976 has been operating since 1993, with current ascertainment at 300. The Australian Rett Syndrome Database (ARSD) consists of information about Rett syndrome cases including their functional ability, behaviour, sleep patterns, medical conditions and genotype. The cases range in age from two to 29 years.The aim of this study was to investigate the type and frequency of sleep problems, relationships with age and MECP2 mutation type and to evaluate changes over time.Parents or carers of the subjects with Rett syndrome were asked to complete a questionnaire about sleep problems on three separate occasions (2000, 2002 and 2004). Regression modelling was used to investigate the relationships between sleep problems, age and mutation type. Sleep problems were identified in over 80% of cases. The prevalence of night-time laughter decreased with age and the prevalence of reported night-time seizures and daytime napping increased with age. The prevalence of sleep problems was highest in cases with a large deletion of the MECP2 gene and in those with the p.R294X or p.R306C mutations.Sleep problems are common in Rett syndrome and there is some variation with age and mutation type.

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Rett syndrome in females with CTS hot spot deletions: A disorder profile

Smeets

Terhal

Casaer

et al. 2004

American J of Med Genetics Pt A

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From a series of 107 females with Rett syndrome (RTT), we describe the long-term history of ten females with a deletion in the C-terminus of the MECP2 gene. We observed that their disorder profile is clinically recognizable with time and different from other atypical and milder RTT phenotypes. In females with hot spot deletions in the C-terminus, dystonia is present from childhood and results in a serious spine deformation in spite of preventive measures. Their adaptive behavior is surprisingly better preserved and in contrast with the typical decline in motor functioning. The delineation of disorder profiles by long-term clinical observation can teach us about genotype/phenotype relationships and eventually about the effect of epigenetic phenomena on the final phenotype.

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Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Cited by 77 publications

References 41 publications

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Sleep problems in Rett syndrome

Rett syndrome in females with CTS hot spot deletions: A disorder profile

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