MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

PubWeight™: 1.45‹?› | Rank: Top 5%

🔗 View Article (PMC 1226090)

Published in Am J Hum Genet on April 17, 2001

Authors

R Trappe1, F Laccone, J Cobilanschi, M Meins, P Huppke, F Hanefeld, W Engel

Author Affiliations

1: Institute of Human Genetics, Georg-August Universität Göttingen, Germany.

Articles citing this

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum Mol Genet (2011) 1.87

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet (2012) 1.78

Understanding what determines the frequency and pattern of human germline mutations. Nat Rev Genet (2009) 1.77

Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet (2002) 1.42

The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep (2010) 1.37

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. J Med Genet (2006) 1.35

Rett syndrome: clinical review and genetic update. J Med Genet (2005) 1.31

Experimental models of Rett syndrome based on Mecp2 dysfunction. Exp Biol Med (Maywood) (2011) 1.27

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet (2006) 1.22

Autism-lessons from the X chromosome. Soc Cogn Affect Neurosci (2006) 1.18

Rett syndrome: genes, synapses, circuits, and therapeutics. Front Psychiatry (2012) 1.14

The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations. Nucleic Acids Res (2006) 1.10

Rett syndrome: the complex nature of a monogenic disease. J Mol Med (Berl) (2003) 1.10

Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes. PLoS One (2010) 1.08

Insertions and deletions are male biased too: a whole-genome analysis in rodents. Genome Res (2004) 1.05

Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research. Neural Plast (2012) 1.02

MECP2 disorders: from the clinic to mice and back. J Clin Invest (2015) 1.02

Propensity for paternal inheritance of de novo mutations in Alexander disease. Hum Genet (2005) 0.97

Genome analyses substantiate male mutation bias in many species. Bioessays (2011) 0.97

Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders. Front Behav Neurosci (2015) 0.93

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet (2004) 0.92

Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts. Hum Genet (2004) 0.92

Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. PLoS One (2011) 0.90

Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome. PLoS One (2013) 0.89

Substitution rate heterogeneity and the male mutation bias. J Mol Evol (2006) 0.87

Rett Syndrome: Reaching for Clinical Trials. Neurotherapeutics (2015) 0.85

Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes. Front Cell Neurosci (2015) 0.84

Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options. Future Neurol (2013) 0.84

De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention. Genome Med (2012) 0.83

Age-dependent expression of MeCP2 in a heterozygous mosaic mouse model. Hum Mol Genet (2011) 0.82

Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders. Elife (2016) 0.82

Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice. Autism Open Access (2012) 0.81

Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. Arch Dis Child Fetal Neonatal Ed (2003) 0.81

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. J Med Genet (2006) 0.80

Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives. Curr Clin Pharmacol (2013) 0.80

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. J Hum Genet (2015) 0.79

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. Orphanet J Rare Dis (2011) 0.78

Development of genome-wide insertion and deletion markers for maize, based on next-generation sequencing data. BMC Genomics (2015) 0.78

Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization. J Mol Diagn (2003) 0.77

Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis. Hum Genet (2005) 0.77

De novo deletion in MECP2 in a monozygotic twin pair: a case report. BMC Med Genet (2011) 0.76

Novel therapeutic approaches: Rett syndrome and human induced pluripotent stem cell technology. Stem Cell Investig (2017) 0.75

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene. Genomic Med (2008) 0.75

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. Am J Med Genet A (2013) 0.75

MeCP2-Related Diseases and Animal Models. Diseases (2014) 0.75

Articles cited by this

A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res (1988) 77.80

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84

Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet (1996) 3.05

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet (1999) 2.42

Unexpectedly similar rates of nucleotide substitution found in male and female hominids. Nature (2000) 2.39

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol (2000) 2.03

The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse. Nat Genet (1996) 1.93

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet (2000) 1.85

MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett (2000) 1.82

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand (1985) 1.81

Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am J Hum Genet (1994) 1.79

Regulation of X-chromosome inactivation in development in mice and humans. Microbiol Mol Biol Rev (1998) 1.72

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet (2000) 1.65

Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature (1990) 1.64

Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med (1994) 1.63

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet (2000) 1.61

MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet (2000) 1.58

X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet (1983) 1.57

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet (2000) 1.57

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am J Hum Genet (1990) 1.54

High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am J Hum Genet (1996) 1.48

Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology (2000) 1.48

Rett syndrome: criteria for inclusion and exclusion. Brain Dev (1985) 1.46

Mutation screening in Rett syndrome patients. J Med Genet (2000) 1.38

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet (2000) 1.24

Rett syndrome: a surprising result of mutation in MECP2. Hum Mol Genet (2000) 1.11

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease. Hum Mutat (1992) 1.03

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. J Hum Genet (2000) 0.98

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. J Med Genet (2000) 0.90

Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1). Hum Genet (1995) 0.85

Articles by these authors

Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet (1996) 3.78

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet (1998) 2.39

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet (2005) 2.35

Monocyte/macrophage differentiation in early multiple sclerosis lesions. Ann Neurol (1995) 2.34

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27

The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain (1998) 2.11

Targeted disruption of the Insl3 gene causes bilateral cryptorchidism. Mol Endocrinol (1999) 1.99

Pharmacological profile of BIBN4096BS, the first selective small molecule CGRP antagonist. Br J Pharmacol (2000) 1.95

Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. Genomics (1996) 1.89

Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS. Pediatr Res (1999) 1.86

300 million years of conserved synteny between chicken Z and human chromosome 9. Nat Genet (1999) 1.78

SALL3, a new member of the human spalt-like gene family, maps to 18q23. Genomics (1999) 1.70

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet (2000) 1.65

Intrathecal IgM synthesis in pediatric MS is not a negative prognostic marker of disease progression: quantitative versus qualitative IgM analysis. Mult Scler (2010) 1.63

Nucleotide sequence of a bovine protamine cDNA. Biol Chem Hoppe Seyler (1987) 1.61

The nucleotide sequence of a human protamine 1 cDNA. Nucleic Acids Res (1987) 1.61

Presence of Chlamydia pneumoniae DNA in the cerebral spinal fluid is a common phenomenon in a variety of neurological diseases and not restricted to multiple sclerosis. Ann Neurol (2001) 1.57

Endogenous serine protease inhibitor modulates epileptic activity and hippocampal long-term potentiation. J Neurosci (1997) 1.55

Male mice deficient for germ-cell cyritestin are infertile. Biol Reprod (1999) 1.54

Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises. Eur J Paediatr Neurol (1997) 1.54

Long-term outcome of children with acute cerebellitis. Neuropediatrics (2012) 1.50

Nucleotide sequence of the gene for human transition protein 1 and its chromosomal localization on chromosome 2. Genomics (1990) 1.49

Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation. Humangenetik (1971) 1.48

Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res (1994) 1.47

Anoxic encephalopathy with predominant involvement of basal ganglia, brain stem and spinal cord in the perinatal period. Report on seven newborns. Acta Neuropathol (1975) 1.46

Rett syndrome: criteria for inclusion and exclusion. Brain Dev (1985) 1.46

A new chromosomal instability disorder confirmed by complementation studies. Clin Genet (1988) 1.45

High seroprevalence of Epstein-Barr virus in children with multiple sclerosis. Neurology (2006) 1.44

The first highly potent and selective non-peptide neuropeptide Y Y1 receptor antagonist: BIBP3226. Eur J Pharmacol (1994) 1.43

Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III. Neuropediatrics (1993) 1.42

Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics (1991) 1.41

Translational control in spermatogenesis. Dev Biol (1995) 1.39

Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families. Neurology (1999) 1.39

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat (2002) 1.38

BIIE0246: a selective and high affinity neuropeptide Y Y(2) receptor antagonist. Eur J Pharmacol (1999) 1.38

C-MYC expression in medulloblastoma and its prognostic value. Int J Cancer (2000) 1.37

Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet (1996) 1.34

[Histochemical studies in experimental neurotomy]. Naturwissenschaften (1965) 1.32

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet (1996) 1.31

Haploid expression of a protamine gene during bovine spermatogenesis. Biol Chem Hoppe Seyler (1987) 1.28

Subtype selectivity of the novel nonpeptide neuropeptide Y Y1 receptor antagonist BIBO 3304 and its effect on feeding in rodents. Br J Pharmacol (1998) 1.28

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet (2005) 1.26

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol (2001) 1.25

Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings. Eur J Endocrinol (1997) 1.25

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase. Proc Natl Acad Sci U S A (1998) 1.24

Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain (1998) 1.23

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. Hum Mutat (1999) 1.22

Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. J Neurol (1999) 1.21

Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. Clin Chim Acta (1981) 1.19

Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency. Hum Mol Genet (2001) 1.19

[Mucolipidosis type II (I-cell disease) with unusually severe heart involvement]. Monatsschr Kinderheilkd (1987) 1.19

Teratozoospermia in mice lacking the transition protein 2 (Tnp2). Mol Hum Reprod (2001) 1.18

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat (2004) 1.18

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics (2002) 1.17

Late onset globoid cell leucodystrophy. Brain (1973) 1.17

An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients. Brain Pathol (1998) 1.17

The clinical pattern of the Rett syndrome. Brain Dev (1985) 1.17

Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin. Hum Mol Genet (1993) 1.16

Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency--a study on 73 subjects from 14 Swiss families. Thromb Haemost (1999) 1.16

L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol (1992) 1.16

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. J Med Genet (2003) 1.15

Mice deficient for spermatid perinuclear RNA-binding protein show neurologic, spermatogenic, and sperm morphological abnormalities. Dev Biol (2001) 1.14

Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS. Neuropediatrics (1999) 1.13

Epidemiology and clinical manifestations of Lyme borreliosis in childhood. A prospective multicentre study with special regard to neuroborreliosis. Acta Paediatr Suppl (1993) 1.13

The axonally secreted serine proteinase inhibitor, neuroserpin, inhibits plasminogen activators and plasmin but not thrombin. J Biol Chem (1998) 1.12

Genetic polymorphism of lactate dehydrogenase isoenzymes in the carp (Cyprinus carpio) apparently due to a "null allele". Biochem Genet (1973) 1.12

The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. Neurology (1995) 1.12

Biochemical and genetic investigation of round-headed spermatozoa in infertile men including two brothers and their father. Andrologia (1984) 1.11

Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome. Hum Genet (1998) 1.11

Rat transition nuclear protein 2 regulatory region directs haploid expression of reporter gene in male germ cells of transgenic mice. Mol Reprod Dev (2001) 1.11

Variable and multiple expression of Protease Nexin-1 during mouse organogenesis and nervous system development. Development (1993) 1.10

Cloning of a cDNA for a novel insulin-like peptide of the testicular Leydig cells. J Biol Chem (1993) 1.09

Involvement of insulin-like factor 3 (Insl3) in diethylstilbestrol-induced cryptorchidism. Endocrinology (2000) 1.09

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. Hum Mol Genet (1994) 1.09

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. Hum Mutat (2001) 1.08

[Autoradiographic studies on X-autosomal translocation in man: 45,X.15-,tan(15qZq+)+]. Cytogenetics (1971) 1.08

Coeliac disease: in vivo toxicity of the putative immunodominant epitope. Gut (2003) 1.08

Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain (1996) 1.07

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet (1999) 1.07

Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. Neuropediatrics (1994) 1.06

Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo. J Neurol (1993) 1.06

Clinical performance of interns after being on call. South Med J (1987) 1.06

Foix-Chavany-Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome. Dev Med Child Neurol (2000) 1.06

Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. J Neurosci (1999) 1.05

Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families. Hum Genet (1988) 1.05

Treatment of apneustic respiratory disturbance with a serotonin-receptor agonist. J Pediatr (1997) 1.05

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet (2004) 1.05

Hyperphosphatasia with mental retardation. J Pediatr (1988) 1.04

Genomic cloning, chromosomal mapping, and expression analysis of msal-2. Mamm Genome (2000) 1.04

Interactions between mouse ZP2 glycoprotein and proacrosin; a mechanism for secondary binding of sperm to the zona pellucida during fertilization. J Cell Sci (2001) 1.04

[The mechanism of diploidization in vertebrate evolution: coexistence of tetrasomic and disomic gene loci for the isocitrate dehydrogenases in trout (salmo irideus)]. Humangenetik (1970) 1.03

Studies on the function of H-Y antigen: dissociation and reorganization experiments on rat gonadal tissue. Cytogenet Cell Genet (1978) 1.02

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). J Neurol Neurosurg Psychiatry (2008) 1.02