Medical Journal Articles

Medical Journal Articles

Below is a list of representative medical papers that have discussed cases with SATB2-associated syndrome caused by either deletions, duplications, or mutations in the SATB2 gene. * denotes available for free.

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*. (

In this report, the second case of SAS with a mutation in SATB2 is described.

This is the first paper that linked SATB2 gene to cleft palate.

  • FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT. 2003. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet 12:2491-2501. PMID: 12915443*. (

In this report a female patient with a duplication that includes SATB2 is described.

  • Kaiser AS, Maas B, Wolff A, Sutter C, Janssen JW, Hinderhofer K, Moog U. 2015. Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia. Eur J Hum Genet 23:704-707. PMID: 25118029*. (

In this report, the authors decribed 2 female patients with SAS that also had Rett syndrome-like features.

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. (