Glass syndrome

Definition:

Glass syndrome, also known as SATB2-associated syndrome (SAS), is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities including palatal and dental abnormalities, behavioral problems, and dysmorphic features. Alterations to 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.

References:

[1]. I A Glass, et al. Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. J Med Genet. 1989 Feb;26(2):127-30. [Content Brief]

[2]. Jacqueline K Rainger, et al. Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. Hum Mol Genet. 2014 May 15;23(10):2569-79. [Content Brief]

[3]. Jill Urquhart, et al. 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. Eur J Med Genet. 2009 Nov-Dec;52(6):454-7. [Content Brief]

[4]. Petcharat Leoyklang, et al. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum Mutat. 2007 Jul;28(7):732-8. [Content Brief]

[5]. Yuri A Zarate, et al. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A. 2017 Feb;173(2):327-337. [Content Brief]

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