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Netzer lab
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Netzer lab

Principal investigator

Prof. Dr. med. Christian Netzer

Institut für Humangenetik
Kerpener Str. 34
50931 Köln (Cologne), Germany
Tel.: +49 221 478-89586

Fax: +49 221 478-86865

 

Group members

 

Group research focus

Our group consists of members of the molecular diagnostics lab. Interesting cases from routine diagnostics are followed-up with latest sequencing technology on a scientific basis. Our research focus during the last years has been brittle bone disease (Osteogenesis imperfecta; OI), a monogenic skeletal disorder. Using next-generation sequencing, we succeeded in identifying several new genes that are mutated in individuals with OI, among these the long-sought genes for the OI types V and VI. In the course of these research projects we closely cooperate with the specialized OI unit of the Cologne University Children´s Hospital (Priv.-Doz. Dr. O. Semler, Prof. Dr. E. Schönau). Our efforts to translate the new knowledge about OI pathogenesis into better treatment strategies has led to the first use of the RANKL antibody denosumab in children with OI.

An additional research focus is set on ethical questions that are raised by the rapid technical advances in human genetics.

 

Publications since 2011

2018

van der Sluijs EPJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Mujgan Sonmez F, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med. 2018 Nov 8. doi: 10.1038/s41436-018-0330-z. [Epub ahead of print]

PubMed PMID: 30349098

Dron JS, Wang J, Berberich AJ, Iacocca MA, Cao H, Yang P, Knoll J, Tremblay K, Brisson D, Netzer C, Gouni-Berthold I, Gaudet D, Hegele RA.
Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia.
J Lipid Res. 2018 Aug;59(8):1529-1535. doi: 10.1194/jlr.P086280. Epub 2018 Jun 4.

PubMed PMID: 29866657

Erger F, Burau K, Elsässer M, Zimmermann K, Moog U, Netzer C.
Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses.
Eur J Hum Genet. 2018 Jun 11. doi: 10.1038/s41431-018-0195-2. [Epub ahead of print]

PubMed PMID: 29891879

2017

Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet. 2017;101(5)

PubMed PMID: 29100093

Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Am J Med Genet A. 2017;173(8):2132-2138.

PubMed PMID: 28574232

Costantini A, Vuorimies I, Mäkitie R, Mäyränpää MK, Becker J, Pekkinen M, Valta H, Netzer C, Kämpe A, Taylan F, Jiao H, Mäkitie O.
CRTAP variants in early-onset osteoporosis and recurrent fractures.
Am J Med Genet A. 2017;173(3):806-808.

PubMed PMID: 27901313

2016

Hoyer-Kuhn H, Franklin J, Allo G, Kron M, Netzer C, Eysel P, Hero B, Schoenau E, Semler O.
Safety and efficacy of denosumab in children with osteogenesis imperfecta - a first prospective trial.
J Musculoskelet Neuronal Interact. 2016;16(1):24-32.

PubMed PMID: 26944820

Moosa S, Chung BH, Tung JY, Altmüller J, Thiele H, Nürnberg P, Netzer C, Nishimura G, Wollnik B. Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. Clin Genet. 2015.

PubMed PMID: 26467156

Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Sang KL, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Donato ND, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2.
Hum Mutat. 2016.

PubMedID: 27302555

2015

Hoyer-Kuhn H, Netzer C, Semler O.
Osteogenesis imperfecta: pathophysiology and treatment.
Wien MedWochenschr. 2015;165(13-14):278-84.

PubMed PMID: 26055811

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, WollnikB, Semler O, Bohlander SK, Kim J, Netzer C.
Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta.
Am J Hum Genet. 2015:5;96(3):432-9.

PubMed PMID: 25683121

2014

Hoyer-Kuhn H, Netzer C, Koerber F, Schoenau E, Semler O.
Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI.
Orphanet J Rare Dis. 2014;26;9(1):145

PubMed PMID: 25257953

Hoyer-Kuhn H, Semler O, Garbes L, Zimmermann K, Becker J, Wollnik B, Schoenau E, Netzer C.
A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
J Bone Miner Res. 2014;29(6):1387-91.

PubMed PMID: 24293101

Arjona FJ, de Baaij, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG. CNNM2 Mutations Cuase Impoaired Brain Development and Seizures in Patients with Hypomagnesemia.
PloS Genet 2014 Apr 3;10(4):e1004267

PubMed PMID: 24699222

Krones T, Koerner U, Schmitz D, et al. (Netzer)
Is the prohibition of prenatal diagnosis of late-onset diseases in the German Genetic Diagnosis Act medically, legally and ethically justified?

Eth. Med. 2014:26(1):33-46.

2013

Hoyer-Kuhn H, Semler O, Garbes L, Becker J, Wollnik B, Schoenau E, Netzer C.
A non-classical IFITM5 mutation located in the coding region causes severe Osteogenesis imperfecta with prenatal onset.
Journal of Bone and Mineral Research (epub ahead of print, DOI 10.1002/jbmr.2156)

PubMed PMID: 24293101

Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B.
Mutations in WNT1 cause different forms of bone fragility.
American Journal of Human Genetics 2013;92(4):565-74.

PubMed PMID: 23499309

Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U.
The Phenotypic Spectrum Of Duplication 5q35.2-q35.3 Encompassing NSD1: Is It Really A Reversed Sotos Syndrome?
American Journal of Medical Genetics Part A 2013;161(9):2158-66.

PubMed PMID: 23913520

Bartels I, Pütz I, Reintjes N, Netzer C, Shoukier M.
Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p.
Eur J Med Genet. 2013 Aug;56(8):458-62.

PubMed PMID: 23811035

Krones T, Körner U, Schmitz D, Henn W, Wewetzer C, Kreß H, Zaracko A, Netzer C, Thorn P, Bockenheimer-Lucius G. Das Verbot der pränatalen Diagnostik spätmanifestierender Erkrankungen im deutschen Gendiagnostikgesetz - Eine Diskussion medizinischer, ethischer, rechtsethischer und rechtlicher Aspekte. Ethik in der Medizin 2013, ePub ahead of print 12.01.2013, DOI 10.1007/s00481-012-0240-6)

 

2012

Semler O*, Netzer C*, Peitz J, Schoenau E. First use of the RANKL antibody denosumab in Osteogenesis Imperfecta Type VI. J Musculoskelet Neuronal Interact. 2012; 12(3):183-8
PubMed PMID: 22947550

Semler O*, Garbes L*, Keupp K*, Swan D, Zimmermann KBecker J, Iden S,  Wirth B,  Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C. A mutation in the 5´-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. American Journal of Human Genetics 2012;91(2):349-57.

PubMed PMID: 22863195

Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmüller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schönau E, Wirth R, Hammerschmidt M, Nürnberg P, Wollnik B, Carney TJ. Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. American Journal of Human Genetics 2012; 90(4):661-674.

PubMed PMID: 22482805

Netzer C und Bohlander SK. Humangenetische Beratung. In: Praxis der Viszeralchirurgie: Endokrine Chirurgie, von D. Bartsch, M. Rothmund, Jörg-Rüdiger Siewert und V. Schumpelick. Springer Berlin Heidelberg 2012.

Semler O, Netzer C, Hoyer-Kuhn H, Schoenau E. Genetische Grundlagen und medikamentöse Behandlungsmöglichkeiten der Osteogenesis imperfecta. Pädiatrische Praxis 2012; 79:81-90

Semler O, Netzer C. Osteogenesis imperfecta. Medizinische Genetik 2012;24:297-311

 

2011

Becker J*, Semler O*, Gilissen* C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C. Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta. American Journal of Human Genetics 2011; 88(3):362-71.

PubMed PMID: 21353196

Laine CM, Chung BD, Susic M, Prescott T, Semler O, Fiskerstrand T, D'Eufemia P, Castori M, Pekkinen M, Sochett E, Cole WG, Netzer C, Mäkitie O. Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG). European Journal of Human Genetics 2011;19(8):875-81