Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2,14)(q33,q22)] interrupting SATB2

Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, Stanyon R, Toriello HV, Hatchwell E. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2,14)(q33,q22)] interrupting SATB2.Clin Genet 2009: 75: 259-264. (C) Blackwell Munksgaard, 2008 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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