Guidelines for reporting clinical features in cases with MECP2 mutations

An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome. A simple scoring system is suggested which will facilitate comparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations.

[1]  D. Armstrong,et al.  The Neuropathology of Rett Syndrome - Overview 1994 , 1995, Neuropediatrics.

[2]  A Rett,et al.  [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. , 1966, Wiener medizinische Wochenschrift.

[3]  E. Trevathan,et al.  The Clinical Recognition and Differential Diagnosis of Rett Syndrome , 1988 .

[4]  A. Bird,et al.  MeCP2 Is a Transcriptional Repressor with Abundant Binding Sites in Genomic Chromatin , 1997, Cell.

[5]  H. Leonard,et al.  Is the girl with Rett syndrome normal at birth? , 2008, Developmental medicine and child neurology.

[6]  T. Matsuishi,et al.  Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome , 2000, Journal of medical genetics.

[7]  B. Hagberg,et al.  Rett variants: a suggested model for inclusion criteria. , 1994, Pediatric neurology.

[8]  S. Dhanjal,et al.  Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females , 2001, Journal of Molecular Medicine.

[9]  D. Cooper,et al.  Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. , 2000, Human molecular genetics.

[10]  S. Naidu.  Rett syndrome: A disorder affecting early brain growth , 1997, Annals of neurology.

[11]  J. Opitz,et al.  Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. , 1986, American journal of medical genetics. Supplement.

[12]  A. Percy.  Neurochemistry of the Rett syndrome. , 1992, Brain & development.

[13]  J Dragich,et al.  Rett syndrome: a surprising result of mutation in MECP2. , 2000, Human molecular genetics.

[14]  H. Zoghbi,et al.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 , 1999, Nature Genetics.

[15]  M. Segawa,et al.  Motor symptoms of the Rett syndrome: abnormal muscle tone, posture, locomotion and stereotyped movement. , 1992, Brain & development.

[16]  J. Clayton-Smith,et al.  Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males , 2000, The Lancet.

[17]  J. Fryns,et al.  A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. , 2000, American journal of human genetics.

[18]  S. Antonarakis,et al.  Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion , 2000 .

[19]  A. Kerr,et al.  Early Clinical Signs in the Rett Disorder , 1995, Neuropediatrics.

[20]  M. Segawa,et al.  Clinical features of the early stage of the Rett syndrome , 1990, Brain and Development.