Klaus W Kjaer
Affiliation: University of Copenhagen
- A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansionsKlaus W Kjaer
Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Denmark
Am J Med Genet A 138:328-39. 2005..Thus, our data have added evidence to the phenotype-genotype correlation previously reported, which was further extended to include lesser involvement of bones in ray 1, 2, and 5...
- Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARGKlaus W Kjaer
Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Panum Institute 24 4, Blegdamsvej 3, 2200 Copenhagen N, Denmark
Am J Med Genet A 137:148-52. 2005..However, it was located 83 bp from exon 2, suggesting it is a rare polymorphism which does not account for the phenotype. No other mutations were found. This suggests that another yet unknown gene is responsible for the condition...
- Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hairKlaus W Kjaer
Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute Building 24 4, Department of Medical Genetics, University of Copenhagen, Blegdamsvej 3b, 2200 Copenhagen N, Denmark
Am J Med Genet A 127:152-7. 2004..We provide an easy method for mutation detection by use of the restriction enzyme Nde1 and discuss possible pathogenetic mechanisms, arguing that loss of function cannot be excluded. This is the second article reporting ODDD mutations...
- Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expressionHans Eiberg
Department of Cellular and Molecular Medicine, Section IV Build 24 4, Panum Institute, University of Copenhagen, Blegdamsvej 3b, 2200, Copenhagen, Denmark
Hum Genet 123:177-87. 2008..In addition, an LOD score of Z = 4.21 between hair color and D14S72 was obtained in the large family, indicating that RABGGTA is a candidate gene for hair color...
- A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 familyKirsten M Sanggaard
Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
Am J Med Genet A 146:1017-25. 2008..No other system was involved indicating nonsyndromic loss. In conclusion, a novel nonsense MYO6 mutation causes post-lingual, slowly progressive autosomal dominant nonsyndromic moderate to severe hearing loss in a Danish family...
- Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex familyLinda P Jakobsen
Department of Cellular and Molecular Medicine, Panum Institute, Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen, Denmark
Am J Med Genet A 143:2716-21. 2007..Our data suggest that an unidentified CL/P gene, or a non-coding IRF6 regulatory element in this linkage interval may have caused CL/P in this family...
- Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13Jacobo Mendioroz
Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
Am J Med Genet A 135:211-3. 2005..We tested HOXD13 but did not find any mutations in exons and intron-exon boundaries. To our knowledge this case is the second one reported with this syndrome...
- Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosisJan Hellemans
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
Hum Mutat 27:290. 2006..Somatic mosaicism for a LEMD3 mutation in the latter group was also not observed, and therefore we must conclude that the genetic defect in the majority of sporadic and isolated melorheostosis remains unknown...
- Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 geneTuula Rinne
1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Eur J Hum Genet 14:904-10. 2006..In addition, we have documented a gain-of-function effect on the dNp63gamma isoform caused by this mutation. We discuss the possible relevance of oral squamous cell carcinoma in one patient, who carries this p63 germline mutation...
- Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2Petra Seemann
Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Berlin, Germany
J Clin Invest 115:2373-81. 2005..The presented experiments have identified some of the main determinants of GDF5 receptor-binding specificity in vivo and open new prospects for generating antagonists and superagonists of GDF5...
- Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeIrene A Aligianis
Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, B15 2TT, UK
Nat Genet 37:221-3. 2005..We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors...
- Brachydactyly type A2 associated with a defect in proGDF5 processingFrank Plöger
Biopharm GmbH, 69115 Heidelberg, Germany
Hum Mol Genet 17:1222-33. 2008..In contrast to mature rhGDF5, (rh) proGDF5 shows a high solubility at physiological pH, a characteristic that might be useful for therapeutic applications...
- Limb anomalies: Developmental and evolutionary aspectsFiorella Gurrieri
Institute of Medical Genetics, Catholic University of Rome, Largo F Vito 1, 00168 Rome, Italy
Am J Med Genet 115:231-44. 2002....