KEGG DISEASE: Glass syndrome

DISEASE: Glass syndrome

Entry

H02146                      Disease

Name

Glass syndrome;
Chromosome 2q32-q33 deletion syndrome;
SATB2-associated syndrome

Description

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.

Category

Chromosomal abnormality

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD44  Deletions of the autosomes
    H02146  Glass syndrome

Gene

SATB2 [HSA:23314] [KO:K23226]

Other DBs

ICD-11:

LD44.20

MeSH:

C567350

OMIM:

612313

Reference

PMID:2918541

Authors

Glass IA, Swindlehurst CA, Aitken DA, McCrea W, Boyd E

Title

Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

Journal

J Med Genet 26:127-30 (1989)
DOI:10.1136/jmg.26.2.127

Reference

PMID:27774744

Authors

Zarate YA, Fish JL

Title

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

Journal

Am J Med Genet A 173:327-337 (2017)
DOI:10.1002/ajmg.a.38022

Reference

PMID:19576302

Authors

Urquhart J, Black GC, Clayton-Smith J

Title

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

Journal

Eur J Med Genet 52:454-7 (2009)
DOI:10.1016/j.ejmg.2009.06.003

Reference

PMID:24363063

Authors

Rainger JK, Bhatia S, Bengani H, Gautier P, Rainger J, Pearson M, Ansari M, Crow J, Mehendale F, Palinkasova B, Dixon MJ, Thompson PJ, Matarin M, Sisodiya SM, Kleinjan DA, Fitzpatrick DR

Title

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

Journal

Hum Mol Genet 23:2569-79 (2014)
DOI:10.1093/hmg/ddt647

Reference

PMID:17377962

Authors

Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V

Title

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

Journal

Hum Mutat 28:732-8 (2007)
DOI:10.1002/humu.20515

» Japanese version

All links

Disease (1)   
   OMIM (1)   
All databases (1)   

Download RDF

DBGET integrated database retrieval system