We identified a novel sctutural variant in CNTNAP2 gene that affect FOXP2 binding site. Although we observed an incomplete penetrance, the role of CNTNAP2 and CNTNAP2-FOXP2 interaction in brain function strongly suggests that arr 7q35(146,054,661-146,464,483)x3 may be one of the causes of the observed pathologic phenotype.
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay
GIGLIO, SABRINA RITAConceptualization
;
2017-01-01
Abstract
We identified a novel sctutural variant in CNTNAP2 gene that affect FOXP2 binding site. Although we observed an incomplete penetrance, the role of CNTNAP2 and CNTNAP2-FOXP2 interaction in brain function strongly suggests that arr 7q35(146,054,661-146,464,483)x3 may be one of the causes of the observed pathologic phenotype.
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