Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome

Yuri A. Zarate, Constance L. Smith-Hicks, Carol Greene, Mary Alice Abbott, Victoria M. Siu, Amy R.U.L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie Kaylor, Katherine Bosanko, Louisa Kalsner, Alice Basinger, Anne M. Slavotinek, Hazel Perry, Margarita Saenz, Marta Szybowska, Louise C. Wilson, Ajith Kumar, Caroline Brain & 38 others Meena Balasubramanian, Holly Dubbs, Xilma R. Ortiz-Gonzalez, Elaine Zackai, Quinn Stein, Cynthia M. Powell, Samantha Schrier Vergano, Allison Britt, Angela Sun, Wendy Smith, E. Martina Bebin, Jonathan Picker, Amelia Kirby, Hailey Pinz, Hannah Bombei, Sonal Mahida, Julie S. Cohen, Ali Fatemi, Hilary J. Vernon, Rebecca McClellan, Leah R. Fleming, Brittney Knyszek, Michelle Steinraths, Cruz Velasco Gonzalez, Anita E. Beck, Katie L. Golden-Grant, Alena Egense, Aditi Parikh, Chantalle Raimondi, Brad Angle, William Allen, Suzanna Schott, Adi Algrabli, Nathaniel H. Robin, Joseph Ray, David B. Everman, Michael J. Gambello, Wendy K. Chung

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series without in-depth phenotypic characterization or genotype-phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals with a molecularly confirmed diagnosis of SAS were referred after clinical diagnostic testing. In this series we present the most comprehensive phenotypic and genotypic characterization of SAS to date, including prevalence of each clinical feature, neurodevelopmental milestones, and when available, patient management. We confirm that the most distinctive features are neurodevelopmental delay with invariably severely limited speech, abnormalities of the palate (cleft or high-arched), dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. This comprehensive clinical characterization will help clinicians with the diagnosis, counseling and management of SAS and help provide families with anticipatory guidance.

Original languageEnglish (US)
Pages (from-to)925-935
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number4
DOIs
StatePublished - Apr 1 2018

Fingerprint

Genetic Association Studies
Natural History
Malocclusion
Cleft Palate
Registries
Counseling
Bone and Bones
Brain

Keywords

  • 2q33.1
  • facial recognition technology
  • genotype–phenotype correlation
  • natural history
  • SATB
  • SATB2-associated syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Zarate, Y. A., Smith-Hicks, C. L., Greene, C., Abbott, M. A., Siu, V. M., Calhoun, A. R. U. L., ... Chung, W. K. (2018). Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. American Journal of Medical Genetics, Part A, 176(4), 925-935. https://doi.org/10.1002/ajmg.a.38630

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. / Zarate, Yuri A.; Smith-Hicks, Constance L.; Greene, Carol; Abbott, Mary Alice; Siu, Victoria M.; Calhoun, Amy R.U.L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybowska, Marta; Wilson, Louise C.; Kumar, Ajith; Brain, Caroline; Balasubramanian, Meena; Dubbs, Holly; Ortiz-Gonzalez, Xilma R.; Zackai, Elaine; Stein, Quinn; Powell, Cynthia M.; Schrier Vergano, Samantha; Britt, Allison; Sun, Angela; Smith, Wendy; Bebin, E. Martina; Picker, Jonathan; Kirby, Amelia; Pinz, Hailey; Bombei, Hannah; Mahida, Sonal; Cohen, Julie S.; Fatemi, Ali; Vernon, Hilary J.; McClellan, Rebecca; Fleming, Leah R.; Knyszek, Brittney; Steinraths, Michelle; Velasco Gonzalez, Cruz; Beck, Anita E.; Golden-Grant, Katie L.; Egense, Alena; Parikh, Aditi; Raimondi, Chantalle; Angle, Brad; Allen, William; Schott, Suzanna; Algrabli, Adi; Robin, Nathaniel H.; Ray, Joseph; Everman, David B.; Gambello, Michael J.; Chung, Wendy K.

In: American Journal of Medical Genetics, Part A, Vol. 176, No. 4, 01.04.2018, p. 925-935.

Research output: Contribution to journalArticle

Zarate, YA, Smith-Hicks, CL, Greene, C, Abbott, MA, Siu, VM, Calhoun, ARUL, Pandya, A, Li, C, Sellars, EA, Kaylor, J, Bosanko, K, Kalsner, L, Basinger, A, Slavotinek, AM, Perry, H, Saenz, M, Szybowska, M, Wilson, LC, Kumar, A, Brain, C, Balasubramanian, M, Dubbs, H, Ortiz-Gonzalez, XR, Zackai, E, Stein, Q, Powell, CM, Schrier Vergano, S, Britt, A, Sun, A, Smith, W, Bebin, EM, Picker, J, Kirby, A, Pinz, H, Bombei, H, Mahida, S, Cohen, JS, Fatemi, A, Vernon, HJ, McClellan, R, Fleming, LR, Knyszek, B, Steinraths, M, Velasco Gonzalez, C, Beck, AE, Golden-Grant, KL, Egense, A, Parikh, A, Raimondi, C, Angle, B, Allen, W, Schott, S, Algrabli, A, Robin, NH, Ray, J, Everman, DB, Gambello, MJ & Chung, WK 2018, 'Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome', American Journal of Medical Genetics, Part A, vol. 176, no. 4, pp. 925-935. https://doi.org/10.1002/ajmg.a.38630
Zarate, Yuri A. ; Smith-Hicks, Constance L. ; Greene, Carol ; Abbott, Mary Alice ; Siu, Victoria M. ; Calhoun, Amy R.U.L. ; Pandya, Arti ; Li, Chumei ; Sellars, Elizabeth A. ; Kaylor, Julie ; Bosanko, Katherine ; Kalsner, Louisa ; Basinger, Alice ; Slavotinek, Anne M. ; Perry, Hazel ; Saenz, Margarita ; Szybowska, Marta ; Wilson, Louise C. ; Kumar, Ajith ; Brain, Caroline ; Balasubramanian, Meena ; Dubbs, Holly ; Ortiz-Gonzalez, Xilma R. ; Zackai, Elaine ; Stein, Quinn ; Powell, Cynthia M. ; Schrier Vergano, Samantha ; Britt, Allison ; Sun, Angela ; Smith, Wendy ; Bebin, E. Martina ; Picker, Jonathan ; Kirby, Amelia ; Pinz, Hailey ; Bombei, Hannah ; Mahida, Sonal ; Cohen, Julie S. ; Fatemi, Ali ; Vernon, Hilary J. ; McClellan, Rebecca ; Fleming, Leah R. ; Knyszek, Brittney ; Steinraths, Michelle ; Velasco Gonzalez, Cruz ; Beck, Anita E. ; Golden-Grant, Katie L. ; Egense, Alena ; Parikh, Aditi ; Raimondi, Chantalle ; Angle, Brad ; Allen, William ; Schott, Suzanna ; Algrabli, Adi ; Robin, Nathaniel H. ; Ray, Joseph ; Everman, David B. ; Gambello, Michael J. ; Chung, Wendy K. / Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. In: American Journal of Medical Genetics, Part A. 2018 ; Vol. 176, No. 4. pp. 925-935.
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