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Published in: Clinical Oral Investigations 8/2018

Open Access 01-11-2018 | Short Communication

Dental radiographic findings in 18 individuals with SATB2-associated syndrome

Authors: John Scott, Chad Adams, Kirt Simmons, Andrea Feather, John Jones, Larry Hartzell, Lucia Wesley, Adam Johnson, Jennifer Fish, Katherine Bosanko, Stephen Beetstra, Yuri A. Zarate

Published in: Clinical Oral Investigations | Issue 8/2018

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Abstract

Objective

To characterize the radiographic dental phenotype of individuals with SATB2-associated syndrome (SAS).

Materials and methods

Participants were evaluated by a multidisciplinary team during a concurrent clinic conducted during the 1st international SAS family meeting held in 2017 at a single institution. Whenever possible, panoramic and/or periapical radiographs were obtained in clinic or previously obtained and provided by the caregiver.

Results

Of the 37 individuals evaluated, 18 (12 males, median age 8.5 years) underwent radiographic examination. Dental radiographs revealed anomalies in all individuals starting at 2 years of age. The most consistent finding was delayed development of the mandibular second bicuspids (83%) with other common radiographic findings including delayed development of the roots of the permanent teeth (78%), severely rotated (56%) or malformed teeth (44%), and taurodontism (44%).

Conclusions

Dental anomalies are fully penetrant and can be documented radiographically in all individuals with SAS.

Clinical relevance

Dental radiographic findings of delayed second premolar development and delayed development of permanent root formation, especially concurrent with findings of taurodontism and malformed teeth, support a clinical suspicion for SAS and should help differentiate SAS from other neurodevelopmental syndromes.
Literature
11.
go back to reference Zarate YA, Kaylor J and Fish J (1993) SATB2-associated syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A and Ledbetter N (eds) Book title., Seattle (WA) Zarate YA, Kaylor J and Fish J (1993) SATB2-associated syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A and Ledbetter N (eds) Book title., Seattle (WA)
12.
go back to reference 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, Consortium UK, Grozeva D, Asam T, Moore D, Sifrim A, McRae J, Hurles ME, Firth HV, Raymond FL, Kini U, Nellaker C, Ddd S, FitzPatrick DR (2017) Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genet Med 19:900–908. https://doi.org/10.1038/gim.2016.211 CrossRefPubMedPubMedCentral 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, Consortium UK, Grozeva D, Asam T, Moore D, Sifrim A, McRae J, Hurles ME, Firth HV, Raymond FL, Kini U, Nellaker C, Ddd S, FitzPatrick DR (2017) Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genet Med 19:900–908. https://​doi.​org/​10.​1038/​gim.​2016.​211 CrossRefPubMedPubMedCentral
13.
go back to reference Zarate YA, Kalsner L, Basinger A, Jones JR, Li C, Szybowska M, Xu ZL, Vergano S, Caffrey AR, Gonzalez CV, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish JL, Everman DB (2017) Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. Clin Genet 92:423–429. https://doi.org/10.1111/cge.12982 CrossRefPubMed Zarate YA, Kalsner L, Basinger A, Jones JR, Li C, Szybowska M, Xu ZL, Vergano S, Caffrey AR, Gonzalez CV, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish JL, Everman DB (2017) Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. Clin Genet 92:423–429. https://​doi.​org/​10.​1111/​cge.​12982 CrossRefPubMed
14.
go back to reference 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. https://doi.org/10.1002/ajmg.a.36849 CrossRefPubMed 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. https://​doi.​org/​10.​1002/​ajmg.​a.​36849 CrossRefPubMed
15.
go back to reference Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun A, 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 JW, Everman DB, Gambello MJ, Chung WK (2018) Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A 176:925–935. https://doi.org/10.1002/ajmg.a.38630 CrossRefPubMed Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun A, 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 JW, Everman DB, Gambello MJ, Chung WK (2018) Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A 176:925–935. https://​doi.​org/​10.​1002/​ajmg.​a.​38630 CrossRefPubMed
Metadata
Title
Dental radiographic findings in 18 individuals with SATB2-associated syndrome
Authors
John Scott
Chad Adams
Kirt Simmons
Andrea Feather
John Jones
Larry Hartzell
Lucia Wesley
Adam Johnson
Jennifer Fish
Katherine Bosanko
Stephen Beetstra
Yuri A. Zarate
Publication date
01-11-2018
Publisher
Springer Berlin Heidelberg
Published in
Clinical Oral Investigations / Issue 8/2018
Print ISSN: 1432-6981
Electronic ISSN: 1436-3771
DOI
https://doi.org/10.1007/s00784-018-2702-9

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