Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

Clayton‐Smith, Jill; Watson, Peter H.; Ramsden, Simon; Black, Graeme C M

doi:10.1016/s0140-6736(00)02661-1

Cited by 162 publications

(122 citation statements)

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“…So far, MECP2 mutations have been shown to be associated with Rett syndrome in females, predominantly as de novo mutations on the paternal X-chromosome; 15 neonatal encephalopathy 6 or X-linked non-specific mental retardation 7 in males which is transmitted through the maternal Xchromosome; X-linked non-specific mental retardation in females; 7 and finally Rett syndrome in XY males when the mutation is present in cells alongside a normal cell line, 8 or in XXY males.…”

Section: Discussionmentioning

confidence: 99%

“…7 One boy affected with a nonfatal neurodevelopmental disorder with similarities to Rett syndrome was found to be mosaic for a MECP2 gene mutation. 8 In addition, an Angelman syndrome-like phenotype has recently been documented in girls with MECP2 mutations. 9 We and others have observed boys with clinical features of Rett syndrome and a normal male karyotype.…”

Section: Introductionmentioning

confidence: 99%

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Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

et al. 2002

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Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

et al. 2002

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“…Moreover, it is now known that there exist rare males with a severe neonatal-onset encephalopathy, with prominent breathing abnormalities. 12 -14 In addition, a number of males with a phenotype comparable to females with classical or atypical RTT have been described, some of who also have a 47XXY karyotype, 15 -17 whereas others are mosaic for severe MECP2 mutations, 18 and still others with MR have MECP2 mutations, which when seen in females are associated with only a much milder phenotype 19 (for a review see 20 ).…”

Section: Clinical Synopsismentioning

confidence: 99%

Rett syndrome: new clinical and molecular insights

2006

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“…In addition, MECP2 mutations have been associated with non-RTT phenotypes, including neonatal onset encephalopathy in males, either as a germline [Villard et al, 2000;Imessaoudene et al, 2001] or somatic [Clayton-Smith et al, 2000] mutation, an Angelman-like phenotype [Watson et al, 2001], mild nonspecific mental retardation [Orrico et al, 2000;Yntema et al, 2002], and X-linked mental retardation pedigrees [Meloni et al, 2000;Dotti et al, 2002;Klauck et al, 2002].…”

Section: Introductionmentioning

confidence: 99%

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

Christodoulou

Grimm

Maher³

et al. 2003

Hum. Mutat.

151

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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,

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Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

Cited by 162 publications

References 5 publications

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

Rett syndrome: new clinical and molecular insights

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

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