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- Title
Toriello–Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
- Authors
Tegay, D. H.; Chan, K. K.; Leung, L.; Wang, C.; Burkett, S.; Stone, G.; Stanyon, R.; Toriello, H. V.; Hatchwell, E.
- 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.
- Subjects
HUMAN abnormalities; CHROMOSOME abnormalities; VELOCARDIOFACIAL syndrome; CHROMOSOMAL translocation; CENTRAL nervous system
- Publication
Clinical Genetics, 2009, Vol 75, Issue 3, p259
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/j.1399-0004.2008.01145.x