Tegay, D. H., Chan, K. K., Leung, L., Wang, C., Burkett, S., Stone, G., Stanyon, R., Toriello, H. V., Hatchwell, E. (March 2009) Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. Clinical Genetics, 75 (3). pp. 259-264. ISSN 0009-9163
Abstract
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.
| Item Type: | Paper |
|---|---|
| Uncontrolled Keywords: | balanced translocation candidate gene chromosome 2q33 chromosome 14q22 SATB2 Toriello-Carey syndrome CLEFT-PALATE BINDING PROTEIN EXPRESSION ANOMALIES 2Q32-Q33 MANNER GENE |
| Subjects: | bioinformatics diseases & disorders > congenital hereditary genetic diseases bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > DNA translocation bioinformatics > genomics and proteomics > genetics & nucleic acid processing bioinformatics > genomics and proteomics |
| Communities: | CSHL labs > Lucito lab |
| Depositing User: | Matt Covey |
| Date: | March 2009 |
| Date Deposited: | 15 Feb 2013 20:23 |
| Last Modified: | 15 Feb 2013 20:23 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/27470 |
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