Wollnik, Bernd - C 12

Condensinopathies: Elucidation of novel molecular and functional mechanisms associated with congenital malformation and premature aging

With his research team Bernd Wollnik investigates inherited forms of rare diseases, especially those which are associated with premature aging phenotypes.

The group aims to identify novel genes associated with these diseases and subsequently to elucidate the underlying pathomechanisms. To date the team has successfully identified over 35 new disease-associated genes for various rare diseases, many of them associated with premature aging phenotypes. The research results provide important information about physiological and pathophysiological aging processes.

In 2015 Prof. Dr. Bernd Wollnik - a former CMMC Junior Research Group Leader - has accepted the offer of the professorship from the University Göttingen.

Prof. Dr. Bernd Wollnik is Director of the Institue of Human Genetics - University of Göttingen.

For further information, please visit:


Beleggia F, Li Y, Fan J, Elcioglu NH, Toker E, Wieland T, Maumenee IH, Akarsu NA, Meitinger T, Strom TM, Lang R, and Wollnik B (2015). Crim1 haploinsufficiency causes defects in eye development in human and mouse. Hum Mol Genet 24, 2267-2273.

Bogershausen N, Tsai IC, Pohl E, Kiper PO, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, and Wollnik B (2015). Rap1-mediated mek/erk pathway defects in kabuki syndrome. J Clin Invest 125, 3585-3599.

Bramswig NC, Ludecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillen-Navarro E, Kiper PO, Lopez-Gonzalez V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, and Wieczorek D (2015). Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of coffin-siris and nicolaides-baraitser syndromes. Hum Genet 134, 553-568.

Garbes L, Kim K, Riess A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, and Netzer C (2015). Mutations in sec24d, encoding a component of the copii machinery, cause a syndromic form of osteogenesis imperfecta. Am J Hum Genet 96, 432-439.

Kilic E, Yigit G, Utine GE, Wollnik B, Mihci E, Nur BG, and Boduroglu K (2015). A novel mutation in rnu4atac in a patient with microcephalic osteodysplastic primordial dwarfism type i. Am J Med Genet A 167A, 919-921.

Moosa S, Chung BH, Tung JY, Altmuller J, Thiele H, Nurnberg P, Netzer C, Nishimura G, and Wollnik B (2015). Mutations in sec24d cause autosomal recessive osteogenesis imperfecta. Clin Genet 10.1111/cge.12678.

Rosin N, Elcioglu NH, Beleggia F, Isguven P, Altmuller J, Thiele H, Steindl K, Joset P, Rauch A, Nurnberg P, Wollnik B, and Yigit G (2015). Mutations in xrcc4 cause primary microcephaly, short stature and increased genomic instability. Hum Mol Genet ddv115 [pii]10.1093/hmg/ddv115.

Yigit G, Brown KE, Kayserili H, Pohl E, Caliebe A, Zahnleiter D, Rosser E, Bogershausen N, Uyguner ZO, Altunoglu U, Nurnberg G, Nurnberg P, Rauch A, Li Y, Thiel CT, and Wollnik B (2015). Mutations in cdk5rap2 cause seckel syndrome. Mol Genet Genomic Med 3, 467-480.

Selected publications 2014

Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, and Jackson AP (2016). Traip promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet 48, 36-43.

Hatzold J, Beleggia F, Herzig H, Altmuller J, Nurnberg P, Bloch W, Wollnik B, and Hammerschmidt M (2016). Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a na,k-atpase beta subunit. Elife 5.

Moosa S, Chung BHY, Tung JYL, Altmuller J, Thiele H, Nurnberg P, Netzer C, Nishimura G, and Wollnik B (2016). Mutations in sec24d cause autosomal recessive osteogenesis imperfecta. Clinical Genetics 89, 517-519.

Moosa S, Obregon MG, Altmuller J, Thiele H, Nurnberg P, Fano V, and Wollnik B (2016). Novel ift122 mutations in three argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. Am J Med Genet A 170, 1295-1301.

Yigit G, Wieczorek D, Bogershausen N, Beleggia F, Moller-Hartmann C, Altmuller J, Thiele H, Nurnberg P, and Wollnik B (2016). A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous katnb1 mutation. Am J Med Genet A 170, 728-733.

Former Funding Period 01/2014 - 12/2016

Information from this funding period will not be updated anymore. New research related information is available here.

Prof. Dr. med. Bernd Wollnik

Institute for Human Genetics

Prof. Dr. med. Bernd Wollnik

Principal Investigator C 12


Work +49 551397590

Fax (Work) +49 551 399303

present address: Heinrich-Düker-Weg 12
37073 Göttingen


Lab Location: ZMMK-Forschungsgebäude
Robert-Koch-Str. 21
50931 Cologne


Link to PubMed