Genomes and Genes
Affiliation: Copenhagen University Hospital
- LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotypeMarianne Schwartz
Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
Neurology 64:1635-7. 2005..A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I...
- Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification methodMarianne Schwartz
Department of Clinical Genetics, University Hospital Rigshospitalet, Copenhagen, DK 2100, Denmark
Genet Test 8:361-7. 2004..Also, the assay reliably identified 7 carrier females, which are usually not easily recognized. In our hands the method is highly reproducible, easy to handle, and has increased our mutation pick-up rate by a total of 33%...
- Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutationsNanna D Rendtorff
Department of Medical Genetics, John F Kennedy Institute, Glostrup, Denmark
Hum Mutat 26:374-83. 2005..In conclusion, the strategy presented may greatly help small- and medium-sized laboratories in the pre- and postnatal molecular diagnosis of TSC...
- High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in DenmarkMarie-Louise Sveen
Department of Neurology, Neuromuscular Research Unit, National University Hospital, Rigshospitalet, Copenhagen, Denmark
Ann Neurol 59:808-15. 2006..The findings suggest that, in the studied region, screening for the 826C>A mutation will identify all persons with LGMD2I...
- Phenotype and clinical course in a family with a new de novo Twinkle gene mutationTina D Jeppesen
Department of Neurology, The Neuromuscular Research Unit and The Copenhagen Muscle Research Centre, Section 7611, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
Neuromuscul Disord 18:306-9. 2008..In accordance with the clinical presentation, abnormal morphological findings in muscle and multiple deletions and depletion of mtDNA in muscle were more pronounced in the proband than in her sons...
- [The molecular-genetic background of spinal muscular atrophy. Diagnosis, prognosis and future treatment]Marianne Schwartz
H:S Rigshospitalet, Klinisk Genetisk Afdeling,
Ugeskr Laeger 167:745-8. 2005
- No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutationsMarianne Schwartz
Department of Clinical Genetics 4062, National University Hospital, Righospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
J Neurol Sci 218:99-101. 2004..Although these findings indicate that the paternal inheritance of mtDNA is rare, they do not rule out that the phenomenon may occur at a rate that could still affect genetic counselling and anthropological research...
- Paternal inheritance of mitochondrial DNAMarianne Schwartz
Department of Clinical Genetics, University Hospital Rigshospitalet, Copenhagen, Denmark
N Engl J Med 347:576-80. 2002
- New patterns of inheritance in mitochondrial diseaseMarianne Schwartz
Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
Biochem Biophys Res Commun 310:247-51. 2003....
- Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathyTina D Jeppesen
Department of Neurology, Neuromuscular Research Unit, The Copenhagen Muscle Research Centre, Rigshospitalet, Copenhagen, Denmark
Brain 129:3402-12. 2006..Regular, supervised aerobic exercise is therefore recommended in MM patients with the studied mutations...
- 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...
- Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutationTina D Jeppesen
Copenhagen Muscle Research Center, Department of Neurology and Neuromuscular Research Unit, DK 2100 Copenhagen, Denmark
Arch Neurol 63:1701-6. 2006..Mitochondrial disorders are generally not associated with a clear phenotype-genotype relationship, which complicates the understanding of the disease and genetic counseling...
- 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...
- A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduriaElsebet Ostergaard
Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
Eur J Pediatr 169:201-5. 2010..We here report a patient with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations...
- Deletion of exon 16 of the dystrophin gene is not associated with diseaseMarianne Schwartz
Department of Clinical Genetics, University Hospital, Copenhagen, Denmark
Hum Mutat 28:205. 2007..The findings suggest that even large gene re-arrangements of the dystrophin gene may not always be disease-causing, and caution a diagnosis of dystrophinopathy in sporadic cases of single exon in-frame deletions...
- [Paternal inheritance of mitochondrial DNA]Marianne Schwartz
H:S Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling, Neurocentret, Neurologisk afdeling
Ugeskr Laeger 165:3627-30. 2003
- 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...
- 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...
- Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutationsMette C Ørngreen
Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
Ann Neurol 57:60-6. 2005..The findings also suggest that single CPT2 gene mutations may exert a dominant-negative effect on the tetrameric CPT II protein...
- 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...
- Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNATina Dysgaard Jeppesen
The Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
J Neurol Sci 214:17-20. 2003..4 mmol/l), and in the mid-occipital region (2.3-3.2 mmol/l) that appeared normal on MRI. Further tests revealed evidence of a severe oxidative defect of muscle metabolism as well...
- Muscle structural changes in mitochondrial myopathy relate to genotypeDavid B Olsen
Dept of Neurology and The Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
J Neurol 250:1328-34. 2003..These findings provide evidence that morphological changes in muscle of MM patients are common and may resemble those of muscular dystrophies, but that development of dystrophic-like changes in muscle relate to genotype...
- Decrement of compound muscle action potential is related to mutation type in myotonia congenitaEskild Colding-Jørgensen
Department of Clinical Neurophysiology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
Muscle Nerve 27:449-55. 2003..In conclusion, CMAP decrement may be pronounced in dominant myotonia congenita, and the presence of decrement is related to mutation type...
- Oxidative capacity correlates with muscle mutation load in mitochondrial myopathyTina D Jeppesen
The Copenhagen Muscle Research Center, Copenhagen, Denmark
Ann Neurol 54:86-92. 2003....
- 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...
- Mitochondrial haplogroups: ischemic cardiovascular disease, other diseases, mortality, and longevity in the general populationMarianne Benn
Department of Clinical Biochemistry, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
Circulation 117:2492-501. 2008..We tested the hypothesis that common haplogroups predict risk of ischemic cardiovascular disease, morbidity from other causes, mortality, and longevity in a general population of European descent...
- Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancerRasmus S Ripa
Department of Clinical Genetics, Copenhagen University Hospital, H S Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen O, Denmark
Mutat Res 570:89-96. 2005..On this basis, the application of the MSH2 N596del mutation, in presymptomatic screening of HNPCC families, is recommended...
- 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...
- Large genomic rearrangements in MECP2Kirstine Ravn
Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark
Hum Mutat 25:324. 2005..The results from this study indicate that large deletions in MECP2 cause classic RTT...
- [Use of molecular biological methods in invasive prenatal genetic diagnosis]Claes Lundsteen
H S Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling
Ugeskr Laeger 165:780-3. 2003..The Human Genome Project now allows prenatal diagnosis for most monogenic diseases, and the rapid improvement of the DNA-chip technology will increase the number of prenatal diagnoses even further...
- Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutationAnnette Mouritsen
University Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark
Int J Androl 33:521-7. 2010..We conclude that TART were most frequently detected in patients with severe CYP21A2 mutations, and may occur already in early childhood in such patients...
- Atypical early-onset Alzheimer's disease caused by the Iranian APP mutationSuzanne Granhøj Lindquist
Memory Disorders Research Group, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
J Neurol Sci 268:124-30. 2008..We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features...
- 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..Conclusion: Scandinavian patients with ABCA4-related retinopathy appear to have a distinct mutation spectrum, which can be identified in patients of diverse clinical phenotypes...
- 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...
- A new mutation causing autosomal dominant periodic fever syndrome in a Danish familyHeike Weyhreter
Department of Paediatrics 531, H:S Hvidovre Hospital, Copenhagen, Denmark
J Pediatr 142:191-3. 2003..In contrast, this mutation was not found in the 4 family members reported to be healthy nor in 50 normal control patients. The youngest member of the family, a 2-year-old boy, was treated successfully with etanercept...
- Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)Tommy Gerdes
Department of Clinical Genetics, Rigshospitalet, DK-2100 Copenhagen, Denmark
Eur J Hum Genet 13:171-5. 2005..In total, 3.2% of the samples were inconclusive. We conclude that automatic computer assisted MLPA is a rapid, simple and reliable method for detection of aneuploidies in prenatal diagnostics...
- Impaired cognitive function in women with congenital adrenal hyperplasiaTrine H Johannsen
University Department of Growth and Reproduction, GR-5064, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark
J Clin Endocrinol Metab 91:1376-81. 2006..These intriguing findings may reflect adverse effects of hyponatremic episodes, suboptimal postnatal hormone replacement therapy or prenatal adrenal androgen excess, and the potential psychosocial consequences of the disorder...
- Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothersGun Peggy S Knudsen
Faculty Division Rikshospitalet, Department of Medical Genetics, University of Oslo, Oslo, Norway
Eur J Hum Genet 14:1189-94. 2006..These findings, particularly the greater degree of X inactivation skewing in Rett syndrome patients, are of potential significance in the analysis of genotype-phenotype correlations in Rett syndrome...
- Recombination of human mitochondrial DNAYevgenya Kraytsberg
Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
Science 304:981. 2004
- X-linked high myopia associated with cone dysfunctionTerri L Young
Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, USA
Arch Ophthalmol 122:897-908. 2004..We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent. All affected males had protanopia instead of deuteranopia...
- N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish populationThomas Rosenberg
Gordon Norrie Center for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, Kennedy Center, Hellerup, Denmark
Mol Vis 13:1962-9. 2007..The study was conducted to resolve the spectrum of ABCA4 mutations in a cohort of unrelated Danish residents with early-onset macular dystrophy...
- Characterization of two new dominant ClC-1 channel mutations associated with myotoniaMorten Grunnet
Department of Medical Physiology, The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
Muscle Nerve 28:722-32. 2003..These studies thereby explain the molecular background for the observed myotonia in patients...
- The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East EuropeAlessandra Maugeri
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
Eur J Hum Genet 10:197-203. 2002..These results indicate a single origin of the 2588G>C mutation which, to our best estimate, occurred between 2400 and 3000 years ago...
- Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathyGert Van Goethem
Neuromuscular Reference Center and Department of Neurology, University Hospital of Antwerp UZA, Antwerpen, Belgium
Eur J Hum Genet 11:547-9. 2003..The third mutation was previously reported as a recessive POLG mutation (T251I). This finding indicates the need for POLG sequencing in patients with features of MNGIE without TP mutations...
- A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiencyVibeke Westphal
The Burnham Institute, Glycobiology Program, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA
Hum Mol Genet 11:599-604. 2002..We speculate that this type of variant may be implicated in other multi-factorial disorders that involve N-glycosylation...
- Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignJoshua D Groman
Training Program in Human Genetics, McKusick Nathans Institute of Genetic Medicine, Baltimore, MD 21287, USA
Am J Hum Genet 74:176-9. 2004..0, 95% CI 11.1-103.7, P<.00001). Thus, determination of TG repeat number will allow for more accurate prediction of benign versus pathogenic 5T alleles...
- Microsatellite analysis of urine sediment versus urine cytology for diagnosing transitional cell tumors of the urinary bladderDelfina Fornari
Department of Pathology, Herlev University Hospital of Copenhagen, Denmark
APMIS 112:148-52. 2004..A panel of the six most informative markers for MAUS was selected. Although MAUS has an advantage over routine cytology in low-grade, low-stage tumors, an overall sensitivity of 45% is not sufficient for routine clinical use...
- [Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes]Marianne Schwartz
Klinisk Genetisk Afdeling, H S Rigshospitalet, DK 2100 København Ø
Ugeskr Laeger 165:912-6. 2003..When a CFTR mutation is identified, genetic counselling and a mutation analysis should be offered to the relevant family members...
- New evaluation of plasma DNA microsatellite analysis in patients with TCC of the urinary bladderDelfina Fornari
Department of Pathology, Herlev University Hospital of Copenhagen, 2730 Herlev, Denmark
Anticancer Res 24:1733-6. 2004..The method was further tested for MSI (microsatellite instability) and compared with tissue DNA analysis...
- Under-representation of bladder transitional cell tumour 9q, 11p and 14q LOH in urine and impact on molecular diagnosisDelfina Fornari
Department of Pathology, Herlev University Hospital of Copenhagen, Herlev Ringvej 75, 2730 Herlev, Denmark
Anticancer Res 25:4049-52. 2005....
- Craniofacial morphology in Muenke syndromeMette K Keller
Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, 3D Laboratory, Faculty of Health Sciences, University of Copenhagen, and the Department of Clinical Genetics, The Juliane Marie Centre, Copenhagen University Hospital, Denmark
J Craniofac Surg 18:374-86. 2007..The study indicates differences with regard to severity of increased digital markings and craniofacial asymmetry between the infants with Muenke syndrome and the infants with nonsyndromic unilateral coronal synostosis...
- Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhoodBirthe S Olsen
Department of Paediatrics, Glostrup University Hospital, Glostrup, Denmark
Pediatr Diabetes 8:239-41. 2007..The diagnosis of TRMA should be suspected in patients with syndromic diabetes including hearing loss and anaemia, even if the latter is only very mild and, particularly, in the case of consanguinity...