Simons VIP Connect
If you or your child have SETBP1 disorder, please consider joining our registry to grow the size of the SETBP1 natural history and encourage research into this gene. It’s secure, private, and simple to sign up. Find out more about the SETBP1 Society registry through Simons VIP Connect. Read more.
University of Washington Autism Center – Tiger Study
In The Investigation of Genetic Exome Research (TIGER) Study we conduct a comprehensive assessment of individuals with genetic events associated with ASD, ID, and/or DD in order to better describe how different genetic events impact behavior in children and adults. Please see below for a list of genes that we are currently studying in the TIGER study. This list is not comprehensive. The field of genetics is always advancing and additional genes might be added to the list in the future. Read more.
ADNP ANK2 ARID1B CHD1 CHD2 CHD8 CTNNB1 CTTNBP2 DSCAM DYRK1A FOXP1 GRIN2B KDM6B LARP4B MBD5 MED13L NCKAP1 PARD3B POGZ PTEN RIMS1 SCN2A SETBP1 SETD2 STXBP1 TBL1XR1 TBR1 TCF7L2 TRIP12 WAC WDFY3 WDR33 ZMYND11
Chromosome 18 Registry and Research Society
The Chromosome 18 Registry and Research Society created and support the Chromosome 18 Clinical Research Center at UT Health San Antonio to advance research for those impacted by chromosome 18 genetic changes. They are another registry interested in collecting a natural history that encompasses the SETBP1 gene, and they have ongoing research projects that those with SETBP1 Disorder may participate in.
Doctors studying variants in SETBP1
Dr. Wendy Chung at Simon’s VIP Connect
Can be reached by emailing firstname.lastname@example.org
You can direct specific questions about your child’s variant/symptoms to Dr. Chung at Simon’s VIP. However, she has stated that her answers will only be as good as the data that is published, of which there is very little. Do not be surprised if there are many answers of “I don’t know.”
Dr. Siddharth (Sid) Srivastava at Boston Children’s Hospital
Dr. Srivastava is a pediatric neurologist with an emphasis on neurodevelopmental disorders including SETBP1 disorder. If you would like to set up an appointment with Dr. Srivastava, you can send an email to Dr. Srivastava’s scheduling assistant.
Dr. Bregje van Bon at Radboud Medical Center in Nijmegen, Netherlands
Dr. van Bon is a clinical geneticist with a specific interest in SETBP1 mutations. She is currently collecting research on individuals with SETBP1 disorder at http://humandiseasegenes.nl/setbp1/.
Research Publications for SETBP1 disorder
- Eising E., Carrion-Castillo A., Vino A., Strand E.A., Jakielski K.J., Scerri T.S., Hildebrand M.S., Webster R., Ma A., Mazoyer B., Francks C., Bahlo M., Scheffer I.E., Morgan A.T., Shriberg L.D., Fisher S. E. A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.Mol Psychiatry. 2018 February; 20: 1476-5578.
- Chen X.S., Reader R.H., Hoischen A., Veltman J.A., Simpson N.H., Francks C., Newbury D.F., Fisher S.E. Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.Sci. Rep. 2017 April; 7: 46105.
- Kornilov S.A., Rakhlin N., Koposov R., Lee, M., Yrigollen C., Caglayan A., Magnuson J.S., Mane S., Chang J., Grigorenko E.L. Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Peds. 2016 April, 25; 137(4). Epub 2016 Mar 25.
- Barnett C. P., van Bon B. W. M. Monogenic and chromosomal causes of isolated speech and language impairment. Am J Med Genet. 2015 July; 52: 719-729.
- Coe B. P., Witherspoon K., Rosenfeld J. A., van Bon B. W., Vulto-van Silfhout A. T., Bosco P., Friend K. L., et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014 October; 46(10):1063-71.
- De novo mutations in moderate or severe intellectual disability. PLoS Genet. 2014 10, e1004772. et al.
- Marseglia G., Scordo M. R., Pescucci C., Nannetti G., Biagini E., Gerundino F., Magi A., et al. 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. Eur J Med Genet. 2012 March; 55(3): 216–221.
- Filges, I. et al. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J. Med. Genet. 2011 48, 117–122.
- Hoischen A., Krumm N., Eichler E. E. Prioritization of neurodevelopmental disease genes by discovery of new mutations Nat Neurosci. 2014 17: 764-772.
- Sullivan J.M., Badimon A., Schaefer U., Ayata P., Gray J., Chung C.W., von Schimmelmann M., Zhang F., Garton N., Smithers N., Lewis H., Tarakhovsky A., Prinjha R.K., Schaefer A. Autism-like syndrome is induced by pharmacological suppression of BET proteins in young mice. J Exp Med. 2015 Oct 19;212(11):1771-81
- SETBP1 disorder: National Institutes of Health -> National Center for Advancing Translational Sciences -> Genetic and Rare Diseases Information Center (GARD)
Research Publications for SETBP1 gene
- Coccaro N., Tota G., Zagaria A., Anelli L., Specchia G., and Albano F. SETBP1 dysregulation in congenital disorders and myeloid neoplasms Oncotarget. 2017 Aug 1; 8(31): 51920–51935
SETBP1 KO Mouse Model
The characterization and mouse line availability are reported at the IMPC website.