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 W, Everman David B, Gambello Michael J, Chung Wendy K
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.
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.
SATB2相关综合征（SAS）是一种常染色体显性疾病，其特征为严重的神经发育障碍，伴有言语受限或无言语、行为问题以及颅面畸形。以往的研究主要局限于病例报告和小样本系列研究，缺乏深入的表型特征描述或基因型-表型相关性分析。72名研究参与者被纳入SAS临床登记系统。经分子确诊的SAS患者在临床诊断测试后被转诊。在本系列研究中，我们展示了迄今为止最全面的SAS表型和基因型特征，包括每种临床特征的患病率、神经发育里程碑，以及在可行的情况下的患者管理。我们证实，最显著的特征是神经发育迟缓且言语严重受限、腭部异常（腭裂或高拱腭）、牙齿异常（牙列拥挤、巨牙症、形状异常）以及伴有或不伴有骨骼或脑部异常的行为问题。这种全面的临床特征描述将有助于临床医生对SAS进行诊断、咨询和管理，并有助于为家庭提供预期指导。
