Genomes and Genes
Affiliation: Copenhagen University Hospital
- A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndromeMorten Duno
Dept of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark
Gene 515:372-5. 2013..This mutation alters the amino acid right next to canonical NARP mutation. We suggest that classic NARP syndrome relates to a defined dysfunction of p.MT-ATP6...
- Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotypeMorten Dunø
Department of Clinical Genetics, 4062, University Hospital, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
Eur J Hum Genet 12:738-43. 2004..Variation in allelic expression has not previously been described for CLCN1, and our finding suggests that allelic variation may be an important modifier of disease progression in myotonia congenita...
- Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletionMorten Dunø
Department of Clinical Genetics, University Hospital Copenhagen, 4062, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
Hum Genet 115:459-67. 2004..The described copy number scanning approach is largely independent of the genomic locus and may be a valuable tool for characterising a large spectrum of deletions...
- High-resolution melting facilitates mutation screening of PYGM in patients with McArdle diseaseMorten Duno
Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark
Ann Hum Genet 73:292-7. 2009..The HRM protocol reduced the need for direct sequencing by approximately 85%, and is a good approach to search for new mutations in PYGM...
- cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in DenmarkMorten Duno
Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark
Eur J Hum Genet 16:935-40. 2008..The present study demonstrates the value of cDNA analysis for CAPN3 in LGMD2A patients and indicates that calpainopathy is an uncommon cause of LGMD in the Denmark...
- Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patientsM Duno
Department of Clinical Genetics, University Hospital Copenhagen, Rigshospitalet 4062, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
Ann Hum Genet 71:713-8. 2007..A wide spectrum of NSD1 mutations have been described in Sos patients, ranging from more than 100 different single nucleotide changes, to partial gene deletions, and to microdeletions of various sizes comprising the entire NSD1 locus...
- Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expressionNanna Witting
Neuromuscular Research Unit and Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
J Neurol 260:2084-93. 2013..The high incidence of reported dysphagia is a new phenotypic feature not previously reported, and cardiac investigations revealed that ANO5-patients may have an increased risk of ventricular arrhythmia...
- A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe IslandsElsebet Ostergaard
Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Denmark
Acta Paediatr 101:e509-13. 2012..The aim of the study was to identify the genetic background for Aicardi-Goutieres syndrome (AGS) in the Faroe Islands...
- Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutationsFlemming Wibrand
Department of Clinical Genetics 4061, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
Muscle Nerve 41:607-13. 2010..The results indicate that RC enzyme analysis in muscle is not a sensitive test for MM in adults. In these patients, abnormal muscle histochemistry appears to be a better predictor ofMM...
- Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutationsElsebet Ostergaard
Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
Brain 130:853-61. 2007....
- Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle diseaseJohn Vissing
Department of Neurology 2082, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark
Brain 132:1545-52. 2009..The milder form of McArdle disease provides important clues to the level of functional myophosphorylase needed to support muscle oxidative metabolism...
- Genetic variation in the inwardly rectifying K channel subunits KCNJ3 (GIRK1) and KCNJ5 (GIRK4) in patients with sinus node dysfunctionHaya N Holmegard
Laboratory of Molecular Cardiology, Copenhagen University Hospital, Copenhagen, Denmark
Cardiology 115:176-81. 2010..The mechanism underlying the abnormal rhythm is incompletely understood...
- A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa casesElsebet Ostergaard
Department of Clinical Genetics 4062, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
Mol Vis 17:1485-92. 2011..The aim of the study was to elucidate the genetic background of retinitis pigmentosa (RP) in a Faroe Islands population, a genetic isolate in the North Atlantic Ocean...
- A novel de novo mutation of the mitochondrial tRNA(lys) gene mt.8340G>A associated with pure myopathyTina Dysgaard Jeppesen
Neuromuscular Research Unit, Section 3342, Rigshospitalet, University of Copenhagen, Denmark Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark Department of Neurology, Aarhus Hospital, University of Aarhus, Denmark Electronic address
Neuromuscul Disord 24:162-6. 2014..The present case expands the mutational and phenotypic spectrum of diseases associated with mutations in MTTK. ..
- Muscle phenotype in patients with myotonic dystrophy type 1Grete Andersen
Neuromuscular Research Unit, Department of Neurology, 3342, Rigshospitalet Blegdamsvej 9, DK 2100, Copenhagen, Denmark
Muscle Nerve 47:409-15. 2013..The pathogenesis of muscle involvement in patients with myotonic dystrophy type 1 (DM1) is not well understood. In this study, we characterized the muscle phenotype in patients with confirmed DM1...
- Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathyMorten Duno
Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Denmark
Ophthalmic Genet 33:225-31. 2012....
- Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophiesSimon Hauerslev
Department of Neurology, Neuromuscular Research Unit, The Copenhagen Muscle Research Center, Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark
BMC Musculoskelet Disord 13:43. 2012..Calpain 3 is suggested to be involved in maturation of contractile elements after muscle degeneration. The aim of this study was to investigate how mutations in the four functional domains of calpain 3 affect muscle regeneration...
- Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndromeElsebet Ostergaard
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
J Med Genet 48:737-40. 2011..Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed basal ganglia lesions typical of Leigh syndrome...
- dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutationsLinea Melchior
Department of Clinical Genetics, 4062 Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
Ann Hum Genet 69:222-6. 2005..A real-time quantitative PCR approach identified two patients with NSD1 deletions. Our mutation screen is compared to other studies and all published mutations and polymorphisms are summarized...
- Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletionElsebet Ostergaard
Department of Clinical Genetics, National University Hospital Rigshospitalet, Copenhagen, Denmark
Am J Hum Genet 81:383-7. 2007..The mtDNA depletion is likely explained by decreased mitochondrial nucleoside diphosphate kinase (NDPK) activity resulting from the inability of NDPK to form a complex with SUCL...
- A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial featuresMaria Kirchhoff
Department of Clinical Genetics, Rigshospitalet, 4052, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
Eur J Med Genet 50:256-63. 2007..Genotyping showed that the duplication was derived from non-allelic homologous recombination of paternal H1 and H2 haplotypes. To our knowledge this is the first report of a patient with a 17q21.31 microduplication...
- Severe axial myopathy in McArdle diseaseNanna Witting
Neuromuscular Research Unit, Department of Neurology, Blegdamsvej, Copenhagen, Sealand, Denmark
JAMA Neurol 71:88-90. 2014..McArdle disease is a nonlysosomal glycogenosis that classically manifests with exercise-induced pain from childhood. Fixed weakness may occur from the fifth decade and is typically mild and located around the shoulder girdle...
- Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophiesNicolai Preisler
Neuromuscular Research Unit, Department of Neurology, University of Copenhagen, Copenhagen, Denmark Electronic address
Mol Genet Metab 110:287-9. 2013..However, it is not unusual that patients go undiagnosed for many years. We hypothesized that patients with late-onset Pompe disease may have been overlooked in a population of patients with unclassified neuromuscular disease...
- Blue cone monochromatism in a female due to skewed X-inactivationAnja L Frederiksen
Department of Clinical Genetics, Aalborg University Hospital Vejle Hospital, Vejle, Denmark
Ophthalmic Genet 34:101-4. 2013..The present case illustrates that females may develop symptoms of recessive X-linked eye diseases in rare cases...
- Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotypeNanna Witting
Neuromuscular Research Unit, Department of Neurology, University of Copenhagen, Rigshospitalet, Denmark
Acta Myol 30:182-4. 2011..This might be of interest in planning exon skipping therapy for Duchenne muscular dystrophy. This report also shows that BMD may present with a normal CK...
- Autosomal dominant monosymptomatic myotonia permanensEskild Colding-Jørgensen
Department of Clinical Neurophysiology, Glostrup Hospital, University of Copenhagen, Glostrup, Denmark
Neurology 67:153-5. 2006..The authors report a family in which the disease is autosomal dominantly inherited. The patients have severe myotonia, but the clinical picture is not qualitatively different from that seen in other nondystrophic myotonias...
- Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruptionLotte Risom
Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark
PLoS ONE 8:e74601. 2013..The results suggest that a genetic approach to preclinical diagnosis will have important implication for surgical and orthodontic treatment of patients with failure of tooth eruption. ..
- Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathyGülsenay Citirak
Neuromuscular Research Unit, Department of Neurology, University Hospital Rigshospitalet, Copenhagen, Denmark
Neuromuscul Disord 24:325-30. 2014..TPM2-related CFTD has only been described in two cases, indicating that mutations in TPM2 are rare causes of CFTD. ..
- Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 geneChristoffer Rasmus Vissing
Rigshospitalet, University of Copenhagen, Denmark
Neurology 80:1908-10. 2013..This led to treatment with riboflavin (100 mg/day for 3 years), again without effect. Clinical examination, including echocardiography, revealed no signs of involvement from other organs, and all relatives were asymptomatic...
- Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase DeficiencyElsebet Ostergaard
Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark
JIMD Rep 9:1-5. 2013..There is thus no evidence for recurrent mutations in the Turkish or other populations...
- Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2Tua Vinther-Jensen
Memory Disorders Research Group, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
Eur J Hum Genet 21:626-9. 2013..Surprisingly, the expanded allele of the father was an interrupted CAG repeat sequence. Furthermore, analyses of single spermatozoa showed a high frequency of paternal germ-line repeat sequence instability of the expanded SCA2 locus...
- Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastiaPhilip Hellmann
Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Arch Dis Child 97:403-9. 2012..To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome...
- Characterizations of a loss-of-function mutation in the Kir3.4 channel subunitKirstine Calloe
The Danish National Research Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, 12 5 10, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark
Biochem Biophys Res Commun 364:889-95. 2007..4-G247R is compensated in vivo. This may explain the lack of clear clinical manifestations and further studies are necessary to elucidate if mutations in Kir3.4 are predisposing AF...
- Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qterMarie Sogaard
The John F, Kennedy Institute, Glostrup, Denmark
BMC Med Genet 6:21. 2005..We report the diagnostic yield in a series of 132 subjects with mental retardation, and the associated clinical phenotypes...