Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

Huppke, Peter; Laccone, Franco; Kramer, Nancy; Engel, Wolfgang; Hanefeld, F.

doi:10.1093/hmg/9.9.1369

Cited by 216 publications

(210 citation statements)

References 31 publications

Supporting

Mentioning

186

Contrasting

Unclassified

Order By: Relevance

“…The results, however, were not conclusive, as different methodologies were applied in the various studies, concerning clinical and mutation classifications and severity score systems [4][5][6]. Nevertheless, the larger studies pointed to a broad correlation between type of mutation and phenotype, patients with truncating mutations having a more severe phenotype, than those with missense mutations [5][6][7][8][9][10][11][12].…”

Section: Introductionmentioning

confidence: 95%

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

Temudo

Santos

Ramos

et al. 2011

Brain and Development

View full text Add to dashboard Cite

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.

show abstract

Section: Introductionmentioning

confidence: 95%

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

Temudo

Santos

Ramos

et al. 2011

Brain and Development

View full text Add to dashboard Cite

show abstract

“…The pathophysiology remains unknown in RTT, but could be the consequence of excessive transcriptional noise due to global abnormalities in the control of gene expression [Willard and Hendrich, 1999;Guy et al, 2001;Chen et al, 2001] or, more likely, due to abnormalities in the expression of a subset of genes critical for normal brain development and/or neuronal cell function. Attempts at establishing phenotypegenotype correlations have yielded conflicting results [Cheadle et al, 2000;Huppke et al, 2000;Amano et al, 2000;Inui et al, 2001;Weaving et al, in press], but most now generally agree the disease severity can at least in part be predicted based on the mutation type and location, and whether there is skewing of X-inactivation.…”

Section: Introductionmentioning

confidence: 99%

RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution

Christodoulou

Grimm

Maher³

et al. 2003

Hum. Mutat.

152

123

View full text Add to dashboard Cite

Communicated by Jaime CuticchiaRett syndrome (RTT) is a neurodevelopmental disorder affecting primarily females, with an incidence of around 1 in 15,000 females. In 1999, mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) were first reported in RTT subjects, and since that time there have been a number of publications describing cohorts of patients and their mutations. In addition, MECP2 mutations have been reported in patients who do not fit the diagnostic criteria for Rett syndrome. We have developed a new locus-specific database, RettBASE (http://mecp2.chw.edu.au/), loosely based on the PAHdb website. The aim is to obtain data relating to all known instances of MECP2 variations, including published data and data directly submitted by one of various means (either by using an online submission form, or by sending the same form in Adobe portable document format (pdf) or Microsoft Word format by email or fax to the database curators). The database has a range of query capabilities, allowing for simple or complex interrogation of the database. To address the issue of patient confidentiality, we have incorporated an Excel spreadsheet algorithm that allows the generation of a unique number based on the subject's name and date of birth. We believe this database will prove to be a useful resource, allowing the development of accurate prevalence data for disease-causing mutations, providing a catalog of polymorphisms, and potentially allowing more accurate phenotype-genotype correlations to be drawn. Hum Mutat 21:466-472,

show abstract

“…(2) Tablo I'de RS'nun tanı kriterleri görülmek-tedir. Bizim olgumuz da Klasik Rett Sendromu özeliklerini taşımaktadır.…”

Section: Discussionunclassified

Anesthetic Management of a case with Rett Syndrome

Sarıtaş¹,

Babacan²,

Sarkılar³

et al. 2011

J Turk Anaesth Int Care

View full text Add to dashboard Cite

ÖZETRett sendromu, özellikle kızları etkileyen, ilerleyici genetik bir bozukluktur. Sıklıkla X'e bağlı bir gen olan MECP2'deki bir mutasyon nedeniyle olur. Kızlardaki mental retardasyonun nedenleri arasında Down sendromundan sonra ikinci sıradadır. Solunum bozuklukları, EEG ve EKG anormallikleri, spastisite, ileri evrelerde kas yıkımı ve distoni, periferik motor bozukluk, skolyoz preanestezik hazırlık ve anestezi uygulaması özen ve hassasiyet gerektirmektedir. Biz bu olgu sunumunda Rett sendromunda anestezik yaklaşımı tartışmak istedik.Anahtar kelimeler: Rett sendromu, malign hipertermi, anestezi SUMMARY Anesthetic Management of a case with Rett SyndromeRett syndrome (RS) is a progressive genetic disorder affecting mainly females. It is usually caused by a mutation in X-linked gene MECP2. After Down syndrome, Rett syndrome is the second leading cause of mental retardation seen in girls. Respiration disorders, EEG and EKG abnormalities spasticity, advanced muscle wasting and dystonia, peripheral motor dysfunction, scoliosos require precision, and attention in preoperative preparation and anesthetic management. We want to evaluate the anesthetic management of Rett Syndrome in this case presentation.

show abstract

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

Cited by 216 publications

References 31 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

RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution

Anesthetic Management of a case with Rett Syndrome

Contact Info

Product

Resources

About