Format

Send to

Choose Destination
Am J Med Genet A. 2017 Feb;173(2):327-337. doi: 10.1002/ajmg.a.38022. Epub 2016 Oct 24.

SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.

Author information

1
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
2
Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.

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.

KEYWORDS:

2q32 deletion syndrome; 2q33.1 microdeletion syndrome; Glass syndrome; SATB2; SATB2-associated syndrome

PMID:
27774744
PMCID:
PMC5297989
DOI:
10.1002/ajmg.a.38022
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Wiley Icon for PubMed Central
Loading ...
Support Center