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Professor Stephen Robertson

Stephen Robertson headshot
Professor Stephen Robertson is the Curekids Professor of Paediatric Genetics. He was educated at the University of Otago graduating in Medicine in 1990. He specialized in Paediatrics and Clinical Genetics after training in Auckland and Melbourne.

From 1999–2002 Stephen was Nuffield Medical Fellow at Oxford University, studying the genetic determinants of congenital malformations in children. His work has led to the implication of a new family of genes, the filamins, in the generation of these conditions. He remains an active clinical geneticist as well as continuing his research into congenital malformations.

He heads the Clinical Genetics Group, which studies single gene disorders in children, with a particular emphasis on disorders that affect the development of the skeleton and the brain.

Single gene disorders are typically rare but in aggregate account for a sizeable fraction of morbidity in the community. The era of large-scale DNA sequencing has brought an unprecedented opportunity to define their cause and study their pathogenesis.

Find out more about Professor Stephen Robertson's research.

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Publications

Jenkins, Z. A., van Kogelenberg, M., Morgan, T., Jeffs, A., Fukuzawa, R., Pearl, E., … Robertson, S. P. (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics, 41(1), 95-100. doi: 10.1038/ng.270

Krakow, D., Robertson, S. P., King, L. M., Morgan, T., & et al (2004). Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature Genetics, 36(4), 405-410.

Robertson, S., Twigg, S. R. F., Sutherland-Smith, A. J., Biancalana, V., Gorlin, R. J., Horn, D., … The OPD-spectrum Disorders Cli Collaborative Group Group, & Wilkie, A. O. M. (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics, 33, 487-489.

Laue, K., Pogoda, H.-M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., … Morgan, T., Gray, M. J., … Robertson, S. P. (2011). Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. American Journal of Human Genetics, 89(5), 595-606. doi: 10.1016/j.ajhg.2011.09.015

Simpson, M. A., Irving, M. D., Asilmaz, E., Gray, M. J., Dafou, D., Elmslie, F. V., … Robertson, S. P., … Trembath, R. C. (2011). Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nature Genetics, 43(4), 303-305. doi: 10.1038/ng.779

Journal - Research Article

Daniel, P. B., Morgan, T., Alanay, Y., Bijlsma, E., Cho, T.-J., Cole, T., … Robertson, S. P. (2012). Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Human Mutation, 33(4), 665-673. doi: 10.1002/humu.22012

van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., … Robertson, S. P., … Hoischen, A. (2012). Cantú Syndrome Is caused by mutations in ABCC9. American Journal of Human Genetics, 90(6), 1094-1101. doi: 10.1016/j.ajhg.2012.04.014

Mansour, S., Swinkels, M., Terhal, P. A., Wilson, L. C., Rich, P., Van Maldergem, L., … Robertson, S. P., & Newbury-Ecob, R. (2012). Van Maldergem syndrome: Further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. European Journal of Human Genetics, 20, 1024-1031. doi: 10.1038/ejhg.2012.57

Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazova, E. A., Addor, M.-C., … Robertson, S. P., … Brown, M. A. (2012). Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. American Journal of Human Genetics, 90(3), 494-501. doi: 10.1016/j.ajhg.2012.01.003

Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., … Robertson, S. P., … Lee, B. H. (2012). Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome. American Journal of Human Genetics, 90(2), 282-289. doi: 10.1016/j.ajhg.2011.11.023

Gay, O., Gilquin, B., Nakamura, F., Jenkins, Z. A., McCartney, R., Krakow, D., … Robertson, S. P., & Baudier, J. (2011). RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape. PNAS, 108(28), 11464-11469. doi: 10.1073/pnas.1104211108

Skidmore, D. L., Chitayat, D., Morgan, T., Hinek, A., Fischer, B., Dimopoulou, A., … Robertson, S. P. (2011). Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS). American Journal of Medical Genetics Part A, 155(8), 1848-1856. doi: 10.1002/ajmg.a.34057

Holman, S. K., Daniel, P., Jenkins, Z. A., Herron, R. L., Morgan, T., Savarirayan, R., … Robertson, S. P. (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics Part A, 155(10), 2397-2408. doi: 10.1002/ajmg.a.34178

Laue, K., Pogoda, H.-M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., … Morgan, T., Gray, M. J., … Robertson, S. P. (2011). Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. American Journal of Human Genetics, 89(5), 595-606. doi: 10.1016/j.ajhg.2011.09.015

Simpson, M. A., Irving, M. D., Asilmaz, E., Gray, M. J., Dafou, D., Elmslie, F. V., … Robertson, S. P., … Trembath, R. C. (2011). Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nature Genetics, 43(4), 303-305. doi: 10.1038/ng.779

van Kogelenberg, M., Lerone, M., De Toni, T., Divizia, M. T., de Brouwer, A. P. M., Veltman, J. A., … Robertson, S. P. (2011). A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. American Journal of Medical Genetics Part A, 155(12), 3144-3147. doi: 10.1002/ajmg.a.34311

Sun, Y., Almomani, R., Aten, E., Celli, J., van der Heijden, J., Venselaar, H., Robertson, S. P., … Breuning, M. H. (2010). Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. American Journal of Human Genetics, 87(1), 146-153. doi: 10.1016/j.ajhg.2010.06.008

Kapur, R. P., Robertson, S. P., Hannibal, M. C., Finn, L. S., Morgan, T., van Kogelenberg, M., & Loren, D. J. (2010). Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and X-linked intestinal pseudo-obstruction. American Journal of Surgical Pathology, 34(10), 1528-1543. doi: 10.1097/PAS.0b013e3181f0ae47

Fukuzawa, R., Holman, S. K., Chow, C. W., Savarirayan, R., Reeve, A. E., & Robertson, S. P. (2010). WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. Journal of Medical Genetics, 47, 791-794. doi: 10.1136/jmg.2010.080663

Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S. C., Li, Y., … Markie, D., Gray, M., … Robertson, S., … Kornak, U. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 41(9), 1016-1021. doi: 10.1038/ng.413

Jenkins, Z. A., van Kogelenberg, M., Morgan, T., Jeffs, A., Fukuzawa, R., Pearl, E., … Robertson, S. P. (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics, 41(1), 95-100. doi: 10.1038/ng.270

Clark, A. R., Sawyer, G. M., Robertson, S. P., & Sutherland-Smith, A. J. (2009). Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Human Molecular Genetics, 18(24), 4791-4800. doi: 10.1093/hmg/ddp442

Huber, C., Oulès, B., Bertoli, M., Chami, M., Fradin, M., Alanay, Y., … Robertson, S. P., … Cormier-Daire, V. (2009). Identification of CANT1 mutations in Desbuquois dysplasia. American Journal of Human Genetics, 85(5), 706-710. doi: 10.1016/j.ajhg.2009.10.001

Sawyer, G. M., Clark, A. R., Robertson, S. P., & Sutherland-Smith, A. J. (2009). Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. Journal of Molecular Biology, 390(5), 1030-1047. doi: 10.1016/j.jmb.2009.06.009

Bicknell, L. S., Pitt, J., Aftimos, S., Ramadas, R., Maw, M. A., & Robertson, S. P. (2008). A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. European Journal of Human Genetics, 16, 1176-1186. doi: 10.1038/ejhg.2008.91

Bicknell, L. S., Farrington-Rock, C., Shafeghati, Y., Rump, P., Alanay, Y., Alembik, Y., … Robertson, S. P. (2007). A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Journal of Medical Genetics, 44, 89-98.

Robertson, S. P. (2005). Filamin A: Phenotypic diversity. Current Opinion in Genetics & Development, 15, 301-307.

Krakow, D., Robertson, S. P., King, L. M., Morgan, T., & et al (2004). Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature Genetics, 36(4), 405-410.

Twigg, S. R. F., Kan, R., Babbs, C., Bochukova, E. G., Robertson, S. P., Wall, S. A., … Wilkie, A. O. M. (2004). Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. PNAS, 101(23), 8652-8657.

Robertson, S., Twigg, S. R. F., Sutherland-Smith, A. J., Biancalana, V., Gorlin, R. J., Horn, D., … The OPD-spectrum Disorders Cli Collaborative Group Group, & Wilkie, A. O. M. (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics, 33, 487-489.

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