Literature DB >> 3058791

Genetic aspects of Rett syndrome.

H Zoghbi1.   

Abstract

To date over 1,000 cases of Rett syndrome have been described in females exclusively. Some of these cases, less than 2 in 100, are familial. The inheritance through maternal lines in the familial cases suggests that Rett syndrome is an X-linked disorder lethal in males. Hypotheses about the genetic mechanisms involved in this syndrome along with suggestions to approach the molecular basis of this disorder are presented.

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Year:  1988        PMID： 3058791     DOI： 10.1177/0883073888003001s15

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  16 in total

1.  Rett syndrome--familial recurrence.

Authors:  C R Banapurmath; S Anees
Journal:  Indian J Pediatr       Date:  1995 Jul-Aug       Impact factor: 1.967

Review 2.  Rett syndrome and MeCP2: linking epigenetics and neuronal function.

Authors:  Mona D Shahbazian; Huda Y Zoghbi
Journal:  Am J Hum Genet       Date:  2002-11-19       Impact factor: 11.025

3.  A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

Authors:  N C Schanen; E J Dahle; F Capozzoli; V A Holm; H Y Zoghbi; U Francke
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

4.  High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.

Authors:  G H Thomas
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

5.  Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.

Authors:  K A Ellison; C P Fill; J Terwilliger; L J DeGennaro; A Martin-Gallardo; M Anvret; A K Percy; J Ott; H Zoghbi
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

Review 6.  Rett syndrome: a review of current knowledge.

Authors:  R Van Acker
Journal:  J Autism Dev Disord       Date:  1991-12

Review 7.  Rett syndrome.

Authors:  A Clarke
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

8.  Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Authors:  Hilde Van Esch; Marijke Bauters; Jaakko Ignatius; Mieke Jansen; Martine Raynaud; Karen Hollanders; Dorien Lugtenberg; Thierry Bienvenu; Lars Riff Jensen; Jozef Gecz; Claude Moraine; Peter Marynen; Jean-Pierre Fryns; Guy Froyen
Journal:  Am J Hum Genet       Date:  2005-07-29       Impact factor: 11.025

9.  A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes.

Authors:  C U Kirchgessner; J A Trofatter; M M Mahtani; H F Willard; L J DeGennaro
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

10.  X chromosome linkage studies in familial Rett syndrome.

Authors:  A R Curtis; S Headland; S Lindsay; N S Thomas; E Boye; S Kamakari; P Roustan; M Anvret; J Wahlstrom; G McCarthy
Journal:  Hum Genet       Date:  1993-01       Impact factor: 4.132
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