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

Mark McIntosh,'s picture
PubMed URL:
Chung WK
Author List: 
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
PubMed ID: 
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.
Published Date: 
April, 2018

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