title: SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
abstract: The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines. The SATB2-associated syndrome registry has now been started and that will allow gathering further clinical information and refining the provided surveillance recommendations. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.
authors: Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
authors: Yuri A
authors: YA
authors: Zarate
authors: Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.
authors: Jennifer L
authors: JL
authors: Fish
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000818:Animals; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D056726:Genetic Association Studies / Q000379:methods; D005820:Genetic Testing; D023281:Genomics / Q000379:methods; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D036961:Matrix Attachment Region Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D011159:Population Surveillance; D013577:Syndrome; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D036961:Matrix Attachment Region Binding Proteins; C521297:SATB2 protein, human; D014157:Transcription Factors
keywords: 2q32 deletion syndrome; 2q33.1 microdeletion syndrome; Glass syndrome; SATB2; SATB2-associated syndrome