Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Atypical Rett syndrome

Rett syndrome is an x-linked dominant neurodevelopmental disorder caused by mutations of the MECP2 gene. There are several allelic variants of mutations of that gene, so an atypical Rett syndrome.

Systematic

Rett syndrome
Atypical Rett syndrome
MECP2
MECP2
Rett syndrome variant with preserved speech

References:

1.

None (1966) [On a unusual brain atrophy syndrome in hyperammonemia in childhood].

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2.

Guerrini R et. al. (1998) Cortical reflex myoclonus in Rett syndrome.

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3.

Amir RE et. al. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

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4.

Wan M et. al. (1999) Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

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5.

De Bona C et. al. (2000) Preserved speech variant is allelic of classic Rett syndrome.

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6.

Clayton-Smith J et. al. (2000) Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.

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7.

Villard L et. al. (2000) Two affected boys in a Rett syndrome family: clinical and molecular findings.

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8.

Imessaoudene B et. al. (2001) MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.

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9.

Watson P et. al. (2001) Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

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10.

Topçu M et. al. (2002) Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.

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11.

Shahbazian M et. al. (2002) Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.

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12.

Heilstedt HA et. al. (2002) Infantile hypotonia as a presentation of Rett syndrome.

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13.

Mount RH et. al. (2002) The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome.

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14.

Maiwald R et. al. (2002) De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.

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15.

Moog U et. al. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

[^]
16.

Weaving LS et. al. (2003) Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

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17.

Hammer S et. al. (2003) Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

[^]
18.

Mnatzakanian GN et. al. (2004) A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

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19.

Schanen C et. al. (2004) Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

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20.

Moretti P et. al. (2005) Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.

[^]
21.

Ravn K et. al. (2005) Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.

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22.

Nuber UA et. al. (2005) Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome.

[^]
23.

Jian L et. al. (2005) p.R270X MECP2 mutation and mortality in Rett syndrome.

[^]
24.

Archer HL et. al. (2006) Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

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25.

Robertson L et. al. (2006) The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

[^]
26.

Bartholdi D et. al. (2006) Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.

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27.

Deng V et. al. (2007) FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.

[^]
28.

Renieri A et. al. (2009) Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

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29.

Adegbola AA et. al. (2009) A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.

[^]
30.

Saunders CJ et. al. (2009) Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

[^]
31.

Chao HT et. al. (2010) Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

[^]
32.

Muotri AR et. al. (2010) L1 retrotransposition in neurons is modulated by MeCP2.

[^]
33.

Derecki NC et. al. (2012) Wild-type microglia arrest pathology in a mouse model of Rett syndrome.

[^]
34.

Schanen NC et. al. (1997) A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

[^]
35.

Hendrich B et. al. (2001) Human diseases with underlying defects in chromatin structure and modification.

[^]
36.

Kormann-Bortolotto MH et. al. (1992) X-inactivation in girls with Rett syndrome.

[^]
37.

Akesson HO et. al. (1992) Rett syndrome: a search for gene sources.

[^]
38.

Benedetti L et. al. (1992) Parental origin of the X chromosomes in Rett syndrome.

[^]
39.

Archidiacono N et. al. (1991) Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations.

[^]
40.

Bruck I et. al. (1991) Difference in early development of presumed monozygotic twins with Rett syndrome.

[^]
41.

Ellison KA et. al. (1992) Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.

[^]
42.

Burd L et. al. (1991) Prevalence study of Rett syndrome in North Dakota children.

[^]
43.

Ferlini A et. al. (1990) Molecular analysis of the Rett syndrome using cDNA synapsin I as a probe.

[^]
44.

Anvret M et. al. (1990) Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations.

[^]
45.

Martinho PS et. al. (1990) In search of a genetic basis for the Rett syndrome.

[^]
46.

Journel H et. al. (1990) Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X.

[^]
47.

Zoghbi HY et. al. (1990) A de novo X;3 translocation in Rett syndrome.

[^]
48.

Bühler EM et. al. (1990) Another model for the inheritance of Rett syndrome.

[^]
49.

None (1990) Follow-up of monozygotic twins concordant for the Rett syndrome.

[^]
50.

Zoghbi HY et. al. (1990) Patterns of X chromosome inactivation in the Rett syndrome.

[^]
51.

None (1990) Is classical Rett syndrome ever present in males?

[^]
52.

None (1990) The Rett syndrome in males.

[^]
53.

Zoghbi HY et. al. (1985) Reduction of biogenic amine levels in the Rett syndrome.

[^]
54.

Yang-Feng TL et. al. (1986) Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.

[^]
55.

Papadimitriou JM et. al. (1988) Rett syndrome: abnormal membrane-bound lamellated inclusions in neurons and oligodendroglia.

[^]
56.

None (1988) Rett syndrome in monozygotic twins.

[^]
57.

Tariverdian G et. al. (1987) A monozygotic twin pair with Rett syndrome.

[^]
58.

Hagberg B et. al. (1985) Rett syndrome: criteria for inclusion and exclusion.

[^]
59.

Nomura Y et. al. (1984) Rett syndrome--clinical studies and pathophysiological consideration.

[^]
60.

Hagberg B et. al. (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.

[^]
61.

None (1980) Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive.

[^]
62.

Armstrong D et. al. (1995) Selective dendritic alterations in the cortex of Rett syndrome.

[^]
63.

Lappalainen R et. al. () Elevated CSF lactate in the Rett syndrome: cause or consequence?

[^]
64.

Webb T et. al. (1993) Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome.

[^]
65.

Motil KJ et. al. (1994) Altered energy balance may account for growth failure in Rett syndrome.

[^]
66.

Hagberg BA et. al. (1994) Rett variants: a suggested model for inclusion criteria.

[^]
67.

Sekul EA et. al. (1994) Electrocardiographic findings in Rett syndrome: an explanation for sudden death?

[^]
68.

Curtis AR et. al. (1993) X chromosome linkage studies in familial Rett syndrome.

[^]
69.

Leonard H et. al. (1995) Skeletal abnormalities in Rett syndrome: increasing evidence for dysmorphogenetic defects.

[^]
70.

Camus P et. al. (1996) X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe.

[^]
71.

Akesson HO et. al. (1995) Rett syndrome: potential gene sources--phenotypical variability.

[^]
72.

None (1996) High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.

[^]
73.

None (1995) Rett syndrome: clinical peculiarities and biological mysteries.

[^]
74.

Akesson HO et. al. (1996) Rett syndrome, classical and atypical: genealogical support for common origin.

[^]
75.

Miyamoto A et. al. (1997) Classical Rett syndrome in sisters: variability of clinical expression.

[^]
76.

Kerr AM et. al. (1997) Rett syndrome: analysis of deaths in the British survey.

[^]
77.

Xiang F et. al. (1998) Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq.

[^]
78.

Schanen C et. al. (1998) A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

[^]
79.

Narayanan V et. al. (1998) Mutation analysis of the M6b gene in patients with Rett syndrome.

[^]
80.

Wan M et. al. (1998) Evaluation of two X chromosomal candidate genes for Rett syndrome: glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1).

[^]
81.

Heidary G et. al. (1998) Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome.

[^]
82.

Cummings CJ et. al. (1998) Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome.

[^]
83.

Van den Veyver IB et. al. (1998) Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome.

[^]
84.

Sirianni N et. al. (1998) Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

[^]
85.

Webb T et. al. (1998) Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.

[^]
86.

Leonard H et. al. (1999) Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis.

[^]
87.

Ellaway CJ et. al. (1999) Prolonged QT interval in Rett syndrome.

[^]
88.

Guideri F et. al. (1999) Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death.

[^]
89.

Rosenberg C et. al. (2001) A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.

[^]
90.

Villard L et. al. (2001) Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.

[^]
91.

Zappella M et. al. (2001) Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

[^]
92.

Bourdon V et. al. (2001) Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.

[^]
93.

Xiang F et. al. (2002) MECP2 mutations in Swedish Rett syndrome clusters.

[^]
94.

Hagberg B et. al. (2002) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001.

[^]
95.

Gill H et. al. (2003) Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

[^]
96.

Smeets E et. al. (2003) Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.

[^]
97.

Smeets E et. al. (2005) Rett syndrome in females with CTS hot spot deletions: a disorder profile.

[^]
98.

Borg I et. al. (2005) Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

[^]
99.

Archer HL et. al. (2006) NTNG1 mutations are a rare cause of Rett syndrome.

[^]
100.

Huppke P et. al. (2006) Very mild cases of Rett syndrome with skewed X inactivation.

[^]
101.

Evans JC et. al. (2006) Germline mosaicism for a MECP2 mutation in a man with two Rett daughters.

[^]
102.

Zimprich F et. al. (2006) Andreas Rett and benign familial neonatal convulsions revisited.

[^]
103.

Venâncio M et. al. (2007) An explanation for another familial case of Rett syndrome: maternal germline mosaicism.

[^]
104.

Horská A et. al. (2009) Brain metabolism in Rett syndrome: age, clinical, and genotype correlations.

[^]
105.

Marchetto MC et. al. (2010) A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells.

[^]
106.

Percy AK et. al. (2010) Rett syndrome diagnostic criteria: lessons from the Natural History Study.

[^]
107.

Neul JL et. al. (2010) Rett syndrome: revised diagnostic criteria and nomenclature.

[^]
108.

Lioy DT et. al. (2011) A role for glia in the progression of Rett's syndrome.

[^]
109.

Hao S et. al. (2015) Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice.

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Update: Sept. 26, 2018