Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

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Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S10038-007-0121-X
P698PubMed publication ID17387578

P50authorJiri ZemanQ37377847
Pavel MartásekQ42546185
Alice BaxováQ56547582
Daniela ZáhorakováQ58881131
P2093author name stringAlena Zumrova
Vladimir Bzduch
Nadezda Misovicova
Jan Hadac
Robert Rosipal
P2860cites workRett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Q22337290
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeQ24303656
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complexQ24324026
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationQ24534159
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcriptionQ29547568
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.Q33910551
Methyl-CpG-binding protein 2 mutations in Rett syndromeQ33927087
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 casesQ34056069
Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.Q34098728
Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlationsQ34141668
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphismsQ34144292
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspotsQ34146268
On a unusual brain atrophy syndrome in hyperammonemia in childhoodQ34230621
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndromeQ34307505
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.Q34415995
Associations between MeCP2 mutations, X-chromosome inactivation, and phenotypeQ34733527
Mutations in exon 1 of MECP2 are a rare cause of Rett syndromeQ35447613
Rett syndrome: natural history and underlying disease mechanismsQ41695389
Preserved speech variant is allelic of classic Rett syndromeQ41924637
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controlsQ45059315
MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autismQ47306741
MECP2 is highly mutated in X-linked mental retardationQ48369835
Rett syndrome: clinical manifestations in males with MECP2 mutationsQ48650852
Guidelines for reporting clinical features in cases with MECP2 mutationsQ48867822
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.Q51028484
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.Q52168328
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.Q54493491
Clinical delineation of Rett syndrome variantsQ71760089
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patientsQ73530772
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regionsQ73593608
Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNAQ73893290
MeCP2 mutations in children with and without the phenotype of Rett syndromeQ74009717
MECP2 mutation screening in Swedish classical Rett syndrome femalesQ74254024
Mutation analysis of the MECP2 gene in patients with Rett syndromeQ78885728
P433issue4
P921main subjectRett syndromeQ917357
P304page(s)342-348
P577publication date2007-02-15
P1433published inJournal of Human GeneticsQ6295302
P1476titleMutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
P478volume52

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cites work (P2860)
Q51915752APOE epsilon4: a potential modulation factor in Rett syndrome.
Q52606025Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
Q38040446Complex single gene disorders and epilepsy.
Q41248277Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation
Q30717719InterRett, a model for international data collection in a rare genetic disorder
Q50225101MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning
Q41934849Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.
Q39001896Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation
Q51850375Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Q59047735Rett Syndrome: Coming to Terms with Treatment
Q40137142Rett syndrome: North American database
Q37023198Rett syndrome: recent research progress
Q37294982The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

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