Functional characterization of rare FOXP2 variants in neurodevelopmental disorder

Table 2 Summary of functional characterization of rare FOXP2 variants in individuals with neurodevelopmental disorders

Variant^a	Localization	Transcriptional repression		Dimerization with FOXPs			Interaction with CTBPs		Role in disorder^b
		SV40	SRPX2	FOXP2	FOXP1	FOXP4	CTBP1	CTBP2
p.Q17L	+	+	+	+	+	+	+	+	Incidental
p.M406T	+	+	+	+	+	+	+	+	Incidental
p.P416T	+	+	+	+	+	+	+	+	Incidental
p.R553H	−	−	−	−	−	−	−	−	Causal
p.N597H	+	+	+	+	+	+	+	+	Incidental
p.R328*	−	−	−	−	−	−	−	−	Causal
P.Q390Vfs*7	−	−	−	−	−	−	−	−	Causal

+ Behaviour of the variant is comparable to that of the wild-type protein in this assay, − Behaviour of the variant differs from that of the wild-type protein in this assay
^aVariants are described in accordance with Human Genome Variation Society recommendations (www.hgvs.org/mutnomen, accessed June 2016) with reference to the major transcript NM_014491.3 (ENST00000350908)
^bProbable role of the variant in the disorder in the affected individual, based on the results of functional characterization

ISSN: 1866-1955