<i>MECP2</i> mutations in Swedish Rett syndrome clusters

Xiang, Fengqing; Stenbom, Y.; Anvret, Maria

doi:10.1034/j.1399-0004.2002.610512.x

Cited by 3 publications

(3 citation statements)

References 11 publications

(13 reference statements)

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“…The conclusion of this study was that there is a common genetic background of these cases (51). Subsequent studies of MECP2 mutations have shown that RTT in these families are not associated with the same mutation (52). Thus the common genetic origin in Swedish RTT clusters is doubtful.…”

Section: Mapping Of the Rtt Genementioning

confidence: 79%

Neurological, genetic and epigenetic features of Rett syndrome

2015

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Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2). Despite the fact that this disease has been studied for more than 20 years the problem of genetic and epigenetic factor involvement in the pathogenesis of RTT is not completely solved. In the present review we describe the contemporary knowledge of neurological, genetic and epigenetic features of RTT. We propose that subsequent studies of RTT should be targeted to reveal genotype-phenotype correlations taking into account the pathogenic effect of MECP2 mutations as well as X chromosome inactivation. We also suggest that additional investigations of epigenetic phenomena in cells with MECP2 mutations are needed in order to describe the complex interaction of genetic and epigenetic processes that leads to the myriad clinical manifestations of RTT. (J Pediatr Neurol 2004; 2(4): 179?190).

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Section: Mapping Of the Rtt Genementioning

confidence: 79%

Neurological, genetic and epigenetic features of Rett syndrome

2015

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“…The 8 hotspot mutations shared 75% (with an overall 80% mutation detection rate) of the total mutations detected in our patients with classic Rett syndrome, which was similar to published percentages, which range from 55% 15 to 100%. 20 This suggested that the hotspot screening strategy might be the screening method of choice for preliminary testing of patients with classic Rett syndrome, apart from direct sequencing of the densely mutated exons 3 and 4, 5 if stringent criteria are applied for the diagnosis of patients with classic Rett syndrome. Because of limitations of the screening method in this study, we cannot exclude the possibility that the case with the nonpathogenic polymorphism A201V carried mutations outside those hotspots or deletions in other regions of the gene that account for 10% to 12% of mutations found in patients with classic Rett syndrome.…”

Section: Discussionmentioning

confidence: 99%

Rett Syndrome: Prevalence Among Chinese and a Comparison of MECP2 Mutations of Classic Rett Syndrome With Other Neurodevelopmental Disorders

Wong

2007

J Child Neurol

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Rett syndrome is an X-linked dominant neurodevelopmental disorder. Mutation of the methyl-CpG-binding protein 2 gene (MECP2) is present in up to 96% of patients with Rett syndrome. Eight mutations represent the hotspot of MECP2 mutations (R106W, R133C, T158M, R168X, R255X, R270X, R294X, and R306C) in patients with classic Rett syndrome. The prevalence and survival rate of Rett syndrome among Chinese women was investigated. The 8 hotspot mutations and the A140V mutation were also studied in 4 cohorts of Chinese children (n = 144) actively followed up in our university neurodevelopmental center with classic Rett syndrome (n = 5), autism spectrum disorder (n = 94), epileptic encephalopathy of unknown cause (n = 22), and nonsyndromal mental retardation (n = 23). The prevalence of Rett syndrome among female Chinese younger than 35 years in Hong Kong West is 0.57 (95% confidence interval, 0.15-0.98) per 10 000. Survival is 100.0% at 10 years and 87.5% at 25 years. Three hotspot mutations (R106W, R255X, and R306C) were found in 3 girls with classic Rett syndrome. No hotspot MECP2 mutations were found in the other 3 cohorts. Screening of MECP2 mutations is not worthwhile in Chinese children with pure cognitive, autistic, or unexplained epileptic disorders without other signs of Rett syndrome. In the early stage of developmental arrest before developmental regression, MECP2 screening might be useful for girls with unexplained epileptic encephalopathy before full-blown classic Rett syndrome is evident.

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“…All identified mutations of MECP2 gene are de novo with no premutations such as expansion of trinucleotide repeats (78). Amir et al (79) suggested that partial loss of function of MECP2 would decrease transcriptional repression in some genes.…”

Section: Patients With Rett Syndrome: Chromosome Locusmentioning

confidence: 99%

Autism: a review

et al. 2015

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This is a review of autism spectrum disorders. It presents the symptoms of the disease discussing the age of diagnosis and first symptoms encountered. It is a polygenic disease that occurs mainly in boys. The importance of early diagnosis is emphasized. The assessment scales used for early diagnosis are discussed. The anatomic basis of the disease is detailed. The molecular genetic aspects, and the techniques employed are reviewed. Special emphasis is placed in chromosome abnormalities observed in autism. Its incidence worldwide is increasing dramatically. This is considered to be due to epigenetic events. Several hypotheses for such epigenetic processes are discussed. Finally the state of intervention in autism and its paradigms are detailed. (J Pediatr Neurol 2003; 1(2): 55?67).

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MECP2 mutations in Swedish Rett syndrome clusters

Cited by 3 publications

References 11 publications

Neurological, genetic and epigenetic features of Rett syndrome

Neurological, genetic and epigenetic features of Rett syndrome

Rett Syndrome: Prevalence Among Chinese and a Comparison of MECP2 Mutations of Classic Rett Syndrome With Other Neurodevelopmental Disorders

Autism: a review

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