Guidelines for reporting clinical features in cases with MECP2 mutations

Kerr, Alison; Nomura, Yasuo; Armstrong, Dawna; Anvret, Maria; Belichenko, Pavel V.; Budden, Sarojini; Cass, Hilary; Christodoulou, John; Clarke, Angus; Ellaway, Carolyn; D’Esposito, Maurizio; Francke, Uta; Hultén, Maj; Julu, Peter O.O.; Leonard, Helen; Naidu, Sakkubai; Schanen, Carolyn; Webb, T.; Engerström, Ingegerd Witt; Yamashita, Yushiro; Segawa, Masaya

doi:10.1016/s0387-7604(01)00193-0

Cited by 142 publications

(113 citation statements)

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“…Patients were defined as classical Rett (n ¼ 37) or atypical Rett (n ¼ 60) according to the criteria described in Kerr et al 6 The control DNA samples were obtained from 146 anonymous, healthy adults.…”

Section: Methodsmentioning

confidence: 99%

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

et al. 2004

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Mutations in MECP2 are a cause of Rett syndrome. Recently, a new isoform of MeCP2 was described, which has an alternative N-terminus, transcribed from exon 1. We screened exon 1 and the promoter region of MECP2 in 97 mutation-negative Rett syndrome cases. We found two sequence variants, but there was no evidence that they are pathogenic. Mutations in exon 1 and the promoter of MECP2 are not a common cause of Rett syndrome.

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Section: Methodsmentioning

confidence: 99%

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

et al. 2004

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“…In its classical form, RTT is characterized by a period of apparently normal early development, followed by regression, with loss of hand and communication skills, acquired microcephaly, the development of stereotypic hand movements, and abnormalities of posture and tone. Diagnostic criteria have been developed and revised [Trevathan and Moser, 1988;Kerr et al, 2001] and a number of clinical variants delineated .…”

Section: Introductionmentioning

confidence: 99%

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

Christodoulou

Grimm

Maher³

et al. 2003

Hum. Mutat.

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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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“…At present, all clinical details except for the general classification in classic, variant, or RTT-like cases, are available only for bank curators on the '' Additional info'', page. We are planning to create, for each case, a table with a set of clinical features and a related clinical score according to data in the literature [Charman et al, 2005;Colvin et al, 2003;Huppke et al, 2002;Kerr et al, 2001;Monros et al, 2001]. The new schedule will be freely available to the general public.…”

Section: Future Prospectsmentioning

confidence: 99%