Source:http://linkedlifedata.com/resource/pubmed/id/19170718
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2009-3-4
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| pubmed:abstractText |
Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks). Both autosomal recessive and X-linked inheritance have been proposed, but chromosomal abnormalities involving disparate loci have also been detected in a small number of cases. We report a patient with classical features of TCS and an apparently balanced de novo translocation between chromosomes 2 and 14 [46,XY,t(2;14)(q33;q22)]. Molecular characterization revealed direct interruption of the special AT-rich sequence-binding protein-2 (SATB2) gene at the 2q33.1 translocation breakpoint, while the 14q22.3 breakpoint was not intragenic. SATB2 mutation or deletion has been associated with both isolated and syndromic facial clefting; however, an association with TCS has not been reported. SATB2 functions broadly as a transcription regulator, and its expression patterns suggest an important role in craniofacial and central nervous system development, making it a plausible candidate gene for TCS.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
1399-0004
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
75
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
259-64
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| pubmed:dateRevised |
2011-11-17
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| pubmed:meshHeading |
pubmed-meshheading:19170718-Abnormalities, Multiple,
pubmed-meshheading:19170718-Acrocallosal Syndrome,
pubmed-meshheading:19170718-Agenesis of Corpus Callosum,
pubmed-meshheading:19170718-Chromosomes, Human, Pair 14,
pubmed-meshheading:19170718-Chromosomes, Human, Pair 2,
pubmed-meshheading:19170718-Craniofacial Abnormalities,
pubmed-meshheading:19170718-Face,
pubmed-meshheading:19170718-Genes, X-Linked,
pubmed-meshheading:19170718-Heart Defects, Congenital,
pubmed-meshheading:19170718-Humans,
pubmed-meshheading:19170718-Infant, Newborn,
pubmed-meshheading:19170718-Intellectual Disability,
pubmed-meshheading:19170718-Male,
pubmed-meshheading:19170718-Matrix Attachment Region Binding Proteins,
pubmed-meshheading:19170718-Syndrome,
pubmed-meshheading:19170718-Transcription Factors,
pubmed-meshheading:19170718-Translocation, Genetic
|
| pubmed:year |
2009
|
| pubmed:articleTitle |
Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
|
| pubmed:affiliation |
Department of Pediatrics, Stony Brook University Medical Center, NY, USA. dtegay@nyit.edu
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| pubmed:publicationType |
Journal Article,
Case Reports
|