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SATB2 associated disorder

MedGen UID:
977265
•Concept ID:
CN294806
•
Disease or Syndrome
Synonyms: SAS; SATB2-associated syndrome
 
Monarch Initiative: MONDO:0100147
Orphanet: ORPHA576278

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • SATB2 associated disorder

Professional guidelines

PubMed

Association Between Loss of SATB2 Expression in Inflammatory Bowel Disease Indefinite for Dysplasia and a Diagnosis of Definitive Dysplasia on Follow-up.
Cretara A, Knee A, Mueller J, Jawale R
Am J Surg Pathol 2022 Aug 1;46(8):1137-1141. Epub 2022 Apr 12 doi: 10.1097/PAS.0000000000001900. PMID: 35405720
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
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 JW, Everman DB, Gambello MJ, Chung WK
Am J Med Genet A 2018 Apr;176(4):925-935. Epub 2018 Feb 13 doi: 10.1002/ajmg.a.38630. PMID: 29436146
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
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
Clin Genet 2017 Oct;92(4):423-429. Epub 2017 Mar 7 doi: 10.1111/cge.12982. PMID: 28139846

Recent clinical studies

Etiology

Growth in individuals with SATB2-associated syndrome.
Zarate YA, Kannan A, Bosanko KA, Caffrey AR
Am J Med Genet A 2022 Oct;188(10):2952-2957. Epub 2022 Jul 15 doi: 10.1002/ajmg.a.62896. PMID: 35838081
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Lewis H, Samanta D, Örsell JL, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Fernández-Jaén A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, Zarate YA
Pediatr Neurol 2020 Nov;112:94-100. Epub 2020 Apr 13 doi: 10.1016/j.pediatrneurol.2020.04.006. PMID: 32446642Free PMC Article
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Rochtus A, Olson HE, Smith L, Keith LG, El Achkar C, Taylor A, Mahida S, Park M, Kelly M, Shain C, Rockowitz S, Rosen Sheidley B, Poduri A
Epilepsia 2020 Feb;61(2):249-258. Epub 2020 Jan 19 doi: 10.1111/epi.16427. PMID: 31957018Free PMC Article
Behavioral phenotype and sleep problems in SATB2-associated syndrome.
Cotton AP, Gokarakonda S, Caffrey AR, Zarate YA, Kumar N
Dev Med Child Neurol 2020 Jul;62(7):827-832. Epub 2019 Aug 16 doi: 10.1111/dmcn.14330. PMID: 31420882
Integrative functional genomic analysis of human brain development and neuropsychiatric risks.
Li M, Santpere G, Imamura Kawasawa Y, Evgrafov OV, Gulden FO, Pochareddy S, Sunkin SM, Li Z, Shin Y, Zhu Y, Sousa AMM, Werling DM, Kitchen RR, Kang HJ, Pletikos M, Choi J, Muchnik S, Xu X, Wang D, Lorente-Galdos B, Liu S, Giusti-Rodríguez P, Won H, de Leeuw CA, Pardiñas AF; BrainSpan Consortium; PsychENCODE Consortium; PsychENCODE Developmental Subgroup, Hu M, Jin F, Li Y, Owen MJ, O'Donovan MC, Walters JTR, Posthuma D, Reimers MA, Levitt P, Weinberger DR, Hyde TM, Kleinman JE, Geschwind DH, Hawrylycz MJ, State MW, Sanders SJ, Sullivan PF, Gerstein MB, Lein ES, Knowles JA, Sestan N
Science 2018 Dec 14;362(6420) doi: 10.1126/science.aat7615. PMID: 30545854Free PMC Article

Diagnosis

SATB2-associated syndrome in adolescents and adults.
Zarate YA, Bosanko KA, Caffrey AR
Am J Med Genet A 2021 Aug;185(8):2391-2398. Epub 2021 May 10 doi: 10.1002/ajmg.a.62258. PMID: 33969926
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Rochtus A, Olson HE, Smith L, Keith LG, El Achkar C, Taylor A, Mahida S, Park M, Kelly M, Shain C, Rockowitz S, Rosen Sheidley B, Poduri A
Epilepsia 2020 Feb;61(2):249-258. Epub 2020 Jan 19 doi: 10.1111/epi.16427. PMID: 31957018Free PMC Article
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL
Hum Mutat 2019 Aug;40(8):1013-1029. Epub 2019 Jun 18 doi: 10.1002/humu.23771. PMID: 31021519Free PMC Article
Bone health and SATB2-associated syndrome.
Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS
Clin Genet 2018 Mar;93(3):588-594. Epub 2017 Dec 27 doi: 10.1111/cge.13121. PMID: 28787087
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
Zarate YA, Fish JL
Am J Med Genet A 2017 Feb;173(2):327-337. Epub 2016 Oct 24 doi: 10.1002/ajmg.a.38022. PMID: 27774744Free PMC Article

Therapy

Looking for Sunshine: Genetic Predisposition to Sun Seeking in 265,000 Individuals of European Ancestry.
Sanna M, Li X, Visconti A, Freidin MB, Sacco C, Ribero S, Hysi P, Bataille V, Han J, Falchi M
J Invest Dermatol 2021 Apr;141(4):779-786. Epub 2020 Sep 10 doi: 10.1016/j.jid.2020.08.014. PMID: 32920024
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D
J Med Genet 2019 Aug;56(8):526-535. Epub 2019 Mar 28 doi: 10.1136/jmedgenet-2018-105778. PMID: 30923172
EWSR1-SMAD3-rearranged Fibroblastic Tumor: An Emerging Entity in an Increasingly More Complex Group of Fibroblastic/Myofibroblastic Neoplasms.
Michal M, Berry RS, Rubin BP, Kilpatrick SE, Agaimy A, Kazakov DV, Steiner P, Ptakova N, Martinek P, Hadravsky L, Michalova K, Szep Z, Michal M
Am J Surg Pathol 2018 Oct;42(10):1325-1333. doi: 10.1097/PAS.0000000000001109. PMID: 29957732
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.
Conte F, Oti M, Dixon J, Carels CE, Rubini M, Zhou H
Hum Genet 2016 Jan;135(1):41-59. Epub 2015 Nov 11 doi: 10.1007/s00439-015-1606-x. PMID: 26561393Free PMC Article

Prognosis

Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance.
Zarate YA, Bosanko K, Andres A, Fish JL
Am J Med Genet A 2024 Feb;194(2):203-210. Epub 2023 Oct 2 doi: 10.1002/ajmg.a.63421. PMID: 37786328
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL
Hum Mutat 2019 Aug;40(8):1013-1029. Epub 2019 Jun 18 doi: 10.1002/humu.23771. PMID: 31021519Free PMC Article
Developmental mechanisms underlying variation in craniofacial disease and evolution.
Fish JL
Dev Biol 2016 Jul 15;415(2):188-197. Epub 2015 Dec 24 doi: 10.1016/j.ydbio.2015.12.019. PMID: 26724698
SATB1 and 2 in colorectal cancer.
Brocato J, Costa M
Carcinogenesis 2015 Feb;36(2):186-91. Epub 2014 Dec 27 doi: 10.1093/carcin/bgu322. PMID: 25543122Free PMC Article
The role of SATB2 in skeletogenesis and human disease.
Zhao X, Qu Z, Tickner J, Xu J, Dai K, Zhang X
Cytokine Growth Factor Rev 2014 Feb;25(1):35-44. Epub 2013 Dec 25 doi: 10.1016/j.cytogfr.2013.12.010. PMID: 24411565

Clinical prediction guides

Growth in individuals with SATB2-associated syndrome.
Zarate YA, Kannan A, Bosanko KA, Caffrey AR
Am J Med Genet A 2022 Oct;188(10):2952-2957. Epub 2022 Jul 15 doi: 10.1002/ajmg.a.62896. PMID: 35838081
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Lewis H, Samanta D, Örsell JL, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Fernández-Jaén A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, Zarate YA
Pediatr Neurol 2020 Nov;112:94-100. Epub 2020 Apr 13 doi: 10.1016/j.pediatrneurol.2020.04.006. PMID: 32446642Free PMC Article
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL
Hum Mutat 2019 Aug;40(8):1013-1029. Epub 2019 Jun 18 doi: 10.1002/humu.23771. PMID: 31021519Free PMC Article
Integrative functional genomic analysis of human brain development and neuropsychiatric risks.
Li M, Santpere G, Imamura Kawasawa Y, Evgrafov OV, Gulden FO, Pochareddy S, Sunkin SM, Li Z, Shin Y, Zhu Y, Sousa AMM, Werling DM, Kitchen RR, Kang HJ, Pletikos M, Choi J, Muchnik S, Xu X, Wang D, Lorente-Galdos B, Liu S, Giusti-Rodríguez P, Won H, de Leeuw CA, Pardiñas AF; BrainSpan Consortium; PsychENCODE Consortium; PsychENCODE Developmental Subgroup, Hu M, Jin F, Li Y, Owen MJ, O'Donovan MC, Walters JTR, Posthuma D, Reimers MA, Levitt P, Weinberger DR, Hyde TM, Kleinman JE, Geschwind DH, Hawrylycz MJ, State MW, Sanders SJ, Sullivan PF, Gerstein MB, Lein ES, Knowles JA, Sestan N
Science 2018 Dec 14;362(6420) doi: 10.1126/science.aat7615. PMID: 30545854Free PMC Article
Bone health and SATB2-associated syndrome.
Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS
Clin Genet 2018 Mar;93(3):588-594. Epub 2017 Dec 27 doi: 10.1111/cge.13121. PMID: 28787087

Recent systematic reviews

Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, van Bokhoven H, Rubini M, Zhou H, Carels CE
Hum Genet 2016 Dec;135(12):1299-1327. Epub 2016 Oct 3 doi: 10.1007/s00439-016-1733-z. PMID: 27699475Free PMC Article

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