Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
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.
Tegay
D H
DH
Department of Pediatrics, Stony Brook University Medical Center, NY, USA. dtegay@nyit.edu
Chan
K K
KK
Leung
L
L
Wang
C
C
Burkett
S
S
Stone
G
G
Stanyon
R
R
Toriello
H V
HV
Hatchwell
E
E
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D055673:Acrocallosal Syndrome / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D050172:Genes, X-Linked; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D036961:Matrix Attachment Region Binding Proteins / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
D036961:Matrix Attachment Region Binding Proteins; C521297:SATB2 protein, human; D014157:Transcription Factors