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Klaus Wilbrandt Kjær

Klaus Wilbrandt Kjær

MD / Associate professor / Lektor

Limb defects: A unique model for developmental processes

Limbs have a huge morphological variability in nature. Large phenotypic variability is also characteristic for many inherited limb malformations, e.g. ectrodactyly, brachydactyly, and synpolydactyly. The “susceptibility” for morphological variation makes the limb an excellent model for studying variability of expressivity, penetrance, and pleiotropy, which is still poorly understood in almost all inherited conditions. Furthermore many genes in limb development are active in the development of other organs, including the brain, e.g. HOX-genes, BMP’s, FGF’s. We aim to identify 1) novel mutations or genes causing human limb malformations, and 2) related interacting or modifying genes which are likely to be involved in the development of other organ systems as well


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Publications related to WJC

35.   Hussain MS, Bakhtiar SM, Farooq M, Anjum I, Janzen E, Toliat MR, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L. Genetic heterogeneity in Pakistani microcephaly families. Clin Genet. 2012 Jul 6;9999(999A). doi: 10.1111/j.1399-0004.2012.01932.x. [Epub ahead of print].
34.   Basel-Vanagaite L, Pasmanik-Chor M, Lurie R, Yeheskel A, Kjaer KW. CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations. Mol Syndromol. 2010;1(5):223-230. Epub 2011 Apr 7.
33.   Farooq M, Baig S, Tommerup N, Kjaer KW. Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1. Am J Med Genet A. 2010;152A:495-7.
32.   Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman SU, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. Eur J Hum Genet. 2010;18:733-6.
31.   Kjaer KW, Tiner M, Cingoz S, Karatosun V, Tommerup N, Mundlos S, Gunal I. A novel subtype of distal symphalangism affecting only the 4th finger. Am J Med Genet A. 2009;149:1571-3.
30.   Muhammad F, Mahmood Baig S, Hansen L, Sajid Hussain M, Anjum Inayat I, Aslam M, Anver Qureshi J, Toilat M, Kirst E, Wajid M, Nürnberg P, Eiberg H, Tommerup N, Kjaer KW. Compound heterozygous ASPM mutations in Pakistani MCPH families. Am J Med Genet A. 2009;149:926-30.
29.   Dathe K, Kjaer KW, Brehm A, Meinecke P, Nürnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S. Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet. 2009;84:483-92.
28.   Tészás A, Møller RS, Kellermayer R, Czakó M, Kjaer KW, Ullmann R, Melegh B, Tommerup N, Kosztolányi G. A cryptic unbalanced translocation resulting in del 13q and dup 15q. Am J Med Genet A. 2008;146A:2570-3.
27.   Sonnesen L, Nolting D, Kjaer KW, Kjaer I. Association between the development of the body axis and the craniofacial skeleton studied by immunohistochemical analyses using collagen II, Pax9, Pax1, and Noggin antibodies. Spine. 2008;33:1622-6.
26.   Plöger F, Seemann P, Schmidt-von Kegler M, Lehmann K, Seidel J, Kjaer KW, Pohl J, Mundlos S. Brachydactyly Type A2 Associated with a Defect in proGDF5 Processing. Hum Mol Genet. 2008;17:1222-33.
25.   Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjærg L. A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. Am J Med Genet A. 2008;146:1017-25.
24.   Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L. 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 expression. Hum Genet. 2008;123:177-87.
23.   Jakobsen LP, Ullmann R, Kjaer KW, Knudsen MA, Tommerup N, Eiberg H. Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family. Am J Med Genet A. 2007;143:2716-21.
22.   Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet. 2007;15:1121-31.
21.   Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T. Genetic Heterogeneity in Microcornea-Cataract: Five Novel Mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci. 2007;48:3937-44.
20.   Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet. 2007;81:388-96.
19.   Kier-Swiatecka E, Kock M, Marker P, Eiberg H, Kjaer KW. The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype. Am J Med Genet A. 2007;143:891-4.
18.   Hansen L, Yao W, Eiberg H, Funding M, Riise R, Kjaer KW, Hejtmancik JF, Rosenberg T. The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46. Mol Vis. 2006;12:1033-9.
17.   Rinne T, Spadoni E, Kjaer KW, Danesino C, Larizza D, Kock M, Huoponen K, Savontaus ML, Aaltonen M, Duijf P, Brunner HG, Penttinen M, van Bokhoven H. Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. Eur J Hum Genet. 2006;14:904-10.
16.   Kjaer KW, Eiberg H, Hansen L, van der Hagen CB, Rosendahl K, Tommerup N, Mundlos S. A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. J Med Genet. 2006;43:225-31.
15.   Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat. 2006;27:290.
14.   Dlugaszewska B, Silahtaroglu A, Menzel C, Kubart S, Cohen M, Mundlos S, Tumer Z, Kjaer KW, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM. Breakpoints around the HOXD cluster result in various limb malformations. J Med Genet. 2006;43:111-8.
13.   Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N. A 72-year-old Danish puzzle resolved-comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. Am J Med Genet A. 2005;138:328-39.
12.   Kock M, Nolting D, Kjaer KW, Hansen BF, Kjaer I. Immunohistochemical expression of p63 in human prenatal tooth primordia. Acta Odontol Scand. 2005;63:253-7.
11.   Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Ploger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest. 2005;115:2373-81.
10.   Kjaer KW, Hansen L, Eiberg H, Christensen KS, Opitz JM, Tommerup N. Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. Am J Med Genet A. 2005;137:148-52.
9.   Mendioroz J, Fernandez-Toral J, Suarez E, Lopez-Grondona F, Kjaer KW, Bermejo E, Martinez-Frias ML. Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13. Am J Med Genet A. 2005;135:211-3 (Erratum in: Am J Med Genet A. 2006;140A:663).
8.   Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005;37:221-3.
7.   Eiberg H, Hansen L, Hansen C, Mohr J, Teglbjaerg PS, Kjaer KW. Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1. Am J Med Genet A. 2005;133:44-7.
6.   Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet. 2005;42:292-8.
5.   Kjaer KW, Hansen L, Eiberg H, Leicht P, Opitz JM, Tommerup N. Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A. 2004;127:152-7.
4.   Kjaer KW, Keeling JW, Opitz JM, Gilbert-Barness E, Hartling U, Fischer-Hansen B, Kjær I. Sirenomelia Sequence According to the Distance Between the First Sacral Vertebra and the Ilia. Am J Med Genet A. 2003;120:503-8.
3.   Gurrieri F, Kjaer KW, Sangiorgi E, Neri G. Limb anomalies: Developmental and evolutionary aspects. Am J Med Genet. 2002;115:231-44 (Review).
2.   Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Vestergaard MB, Tommerup N, Opitz JM. HOXD 13 polyalanine tract expansion in classical synpolydactyly Type Vordingborg. Am J Med Genet. 2002;110:116-21.
1.   Busch R, Kjaer KW. Ectrodactyly and Germany`s eugenics law of 14 July 1933. Am J Med Genet. 2002;110:184-90.

Presentations related to WJC

European Human Genetics Conference 2005 (ESHG 2005)
Prague, May 07, 2005
3.PDF  Kjaer KW, Lehmann K, Nurnberg P, Tommerup N, Mundlos S. A new locus for brachydactyly type A2 maps to chromosome 20p.
European Human Genetics Conference 2003
Birmingham, England, May 02, 2003
2.PDF  Kjaer KW, Christensen KS, Hansen L, Tommerup N. Second case of inherited Laurin-Sandrow Syndrome (LSS)?.
European Human Genetics Conference 2002
Strasbourg, France, May 24, 2002
Oral presentations
1.   Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Opitz JM, Tommerup N. A systematic study of limb defects in Denmark. Eur J Hum Genet 2002:10(supp);67 (C31).

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