Medical Journal Articles

Medical Journal Articles

Comprehensive reviews that include care recommendations are available for free:

  • Zarate, Y.A. and J.L. Fish, SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A, 2017. 173(2): p. 327-337. PMID: 27774744. (
  • Zarate, Y.A., J. Kaylor, and J. Fish, SATB2-Associated Syndrome, in GeneReviews(R), M.P. Adam, et al., Editors. 2017: Seattle (WA). (

Below is a list of other representative medical papers that have discussed cases with SATB2-associated syndrome.

In this study, the authors describe 7 patients with deletions at 2q33.1 providing further evidence of the role of SATB2 in the main feaures seen in this syndrome

  • Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ, Friedman N, Moran R, Feret H, Zackai EH, Theisen A, Rosenfeld JA, Parker MJ. 2011. Case series: 2q33.1 microdeletion syndrome-further delineation of the phenotype. J Med Genet 48:290-298. PMID: 21343628. (

In this study, several of the functions of the SATB2 gene are explained through animal models.

  • Britanova O, Depew MJ, Schwark M, Thomas BL, Miletich I, Sharpe P, Tarabykin V. 2006. Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. Am J Hum Genet 79:668-678. PMID: 16960803*. (

This was the first report of what we now describe as SAS.

  • Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V. 2007. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum Mutat 28:732-738. PMID: 17377962. (

In this report, 3 additional patients with deletions including SATB2 are described.

  • Rosenfeld JA, Ballif BC, Lucas A, Spence EJ, Powell C, Aylsworth AS, Torchia BA, Shaffer LG. 2009. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PLoS One 4:e6568. PMID: 19668335*. (

In this report, 4 additional patients with deletions including SATB2 are described.

  • Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR. 2005. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet 48:276-289. PMID: 16179223. (

In this report, 5 patients with SAS and mutations in SATB2 are described.

  • Zarate YA, Perry H, Ben-Omran T, Sellars EA, Stein Q, Almureikhi M, Simmons K, Klein O, Fish J, Feingold M, Douglas J, Kruer MC, Si Y, Mao R, McKnight D, Gibellini F, Retterer K, Slavotinek A. 2015. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet A 167A:1026-1032. PMID: 25885067. (

In this report, several patients with SAS and skeletal problems are described.

  • Zarate, Y.A., M. Steinraths, A. Matthews, W. Smith, A. Sun, L.C. Wilson, C. Brain, J. Allgove, B. Jacobs, J.L. Fish, C.M. Powell, W. Wasserman, C. Van Karnebeek, E.L. Wakeling, and N.S. Ma, Bone health and SATB2-associated syndrome. Clin Genet, 2017. PMID:28787087. (

In the following 2 reports, several individuals with SAS were described:

    • Zarate, Y.A., L. Kalsner, A. Basinger, J.R. Jones, C. Li, M. Szybowska, Z.L. Xu, S. Vergano, A.R. Caffrey, C.V. Gonzalez, H. Dubbs, E. Zackai, F. Millan, A. Telegrafi, B. Baskin, R. Person, J.L. Fish, and D.B. Everman, Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. Clin Genet, 2017. 92(4): p. 423-429. PMID: 28139846. (
  • Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, Kvarnung M, Mehta S, McKee S, Whiteford M, Stewart F, Connell F, Clayton-Smith J, Mansour S, Mohammed S, Fryer A, Morton J; UK10K Consortium, Grozeva D, Asam T, Moore D, Sifrim A, McRae J, Hurles ME, Firth HV, Raymond FL, Kini U, Nellåker C, Ddd Study, FitzPatrick DR. Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genet Med. 2017 Aug;19(8):900-908. PMID:8151491. (