Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.

PubWeight™: 0.84‹?›

🔗 View Article (PMC 3902979)

Published in Hum Mutat on November 27, 2012

Authors

Arianna Tucci1, Eleanna Kara, Anna Schossig, Nicole I Wolf, Vincent Plagnol, Katherine Fawcett, Coro Paisán-Ruiz, Matthew Moore, Dena Hernandez, Sebastiano Musumeci, Michael Tennison, Raoul Hennekam, Silvia Palmeri, Alessandro Malandrini, Salmo Raskin, Dian Donnai, Corina Hennig, Andreas Tzschach, Roel Hordijk, Thomas Bast, Katharina Wimmer, Chien-Ning Lo, Simon Shorvon, Heather Mefford, Evan E Eichler, Roger Hall, Ian Hayes, John Hardy, Andrew Singleton, Johannes Zschocke, Henry Houlden

Author Affiliations

1: Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

Articles cited by this

Familial epilepsy and yellow teeth--a disease of the CNS associated with enamel hypoplasia. Helv Paediatr Acta (1974) 1.26

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. Am J Hum Genet (2012) 1.21

A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features. J Med Genet (1988) 0.99

A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome. Brain Dev (1995) 0.99

Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta. Am J Med Genet (1993) 0.99

Kohlschütter syndrome: syndrome of epilepsy--dementia--amelogenesis imperfecta. Neuropediatrics (1993) 0.98

[Kohlschütter syndrome--an example of a rare progressive neuroectodermal disease. Case report and review of the literature]. Klin Padiatr (1997) 0.98

Kohlschutter syndrome in siblings. Clin Dysmorphol (2005) 0.98

Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome. Am J Med Genet A (2006) 0.97

A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome. Am J Hum Genet (2012) 0.95

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome. Eur J Med Genet (2012) 0.91

Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome? Am J Med Genet (1994) 0.86

Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome? Am J Med Genet (1994) 0.81

Articles by these authors

Finding the missing heritability of complex diseases. Nature (2009) 67.95

Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96

Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nat Methods (2013) 31.15

Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28

Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40

Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31

Recent segmental duplications in the human genome. Science (2002) 21.30

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet (2007) 19.04

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet (2009) 16.53

Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res (2009) 15.15

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70

Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25

Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27

A survey of genetic human cortical gene expression. Nat Genet (2007) 12.04

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94

Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73

TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution. Nat Genet (2007) 10.38

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36

Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34

The pattern of polymorphism in Arabidopsis thaliana. PLoS Biol (2005) 10.13

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07

A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10

Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06

Genomewide association studies and human disease. N Engl J Med (2009) 9.05

Limitations of next-generation genome sequence assembly. Nat Methods (2010) 9.04

Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature (2010) 8.99

Diversity of human copy number variation and multicopy genes. Science (2010) 8.97

A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42

The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23

Shotgun sequence assembly and recent segmental duplications within the human genome. Nature (2004) 7.91

A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. Nat Genet (2008) 7.71

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70

Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med (2008) 7.66

De novo mutations in epileptic encephalopathies. Nature (2013) 7.42

Guidelines on the management of valvular heart disease: The Task Force on the Management of Valvular Heart Disease of the European Society of Cardiology. Eur Heart J (2007) 7.34

Genome structural variation discovery and genotyping. Nat Rev Genet (2011) 7.34

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol (2006) 7.32

A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J Clin Psychiatry (2007) 7.23

GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron (2007) 6.88

Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet (2010) 6.66

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62

Parkinson's disease. Lancet (2009) 6.60

Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia. Proc Natl Acad Sci U S A (2003) 6.46

Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res (2009) 6.42

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet (2011) 6.36

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21

Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet (2007) 6.11

Whole-genome shotgun assembly and comparison of human genome assemblies. Proc Natl Acad Sci U S A (2004) 6.08

Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05

Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis (2006) 5.96

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93

Complex SNP-related sequence variation in segmental genome duplications. Nat Genet (2004) 5.90

The genome of a songbird. Nature (2010) 5.90

Toxic proteins in neurodegenerative disease. Science (2002) 5.82

A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet (2005) 5.81

Genome analysis of the platypus reveals unique signatures of evolution. Nature (2008) 5.74

Recombination and linkage disequilibrium in Arabidopsis thaliana. Nat Genet (2007) 5.69

Markov chain Monte Carlo without likelihoods. Proc Natl Acad Sci U S A (2003) 5.67

New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52

A genome-wide comparison of recent chimpanzee and human segmental duplications. Nature (2005) 5.51

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet (2006) 5.50

Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol (2009) 5.45

Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat Methods (2010) 5.44

An Alu transposition model for the origin and expansion of human segmental duplications. Am J Hum Genet (2003) 5.33

Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32

Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet (2006) 5.25

Modernizing reference genome assemblies. PLoS Biol (2011) 5.23

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet (2012) 4.87

Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85

A robust statistical method for case-control association testing with copy number variation. Nat Genet (2008) 4.78