Prospective investigation of FOXP1 syndrome

Table 1 FOXP1 mutations in this cohort

ID	Coding DNA change	Protein change	Genomic change	Effect	Inheritance
S1	c.975-2A>C	p.Lys325Asnfs*12	chr3:g.71050212T>G	Splice-site	De novo
S2^a	c.1267_1268delGT	p.Val423Hisfs*37	chr3:g.71027059_71027060delAC	Frameshift	De novo
S3	c.1333_1335delinsAA	p.Val445Asnfs*29	chr3:g.71026992_71026994delinsTT	Frameshift	De novo
S4^b	c.1393A>G	p.Arg465Gly	chr3:g.71026829T>C	Missense	De novo
S5	c.1506C>G	p.Phe502Leu	chr3:g.71026116G>C	Missense	De novo
W1^c	c.1014dupA	p.Ala339Serfs*4	chr3:g.71050171dupT	Frameshift	De novo
W2	c.1240delC	p.Leu414*	chr3:g.71027087delG	Nonsense	Unknown
W3	c.1409A>G	p.Tyr470Cys	chr3:g.71026813T>C	Missense	De novo
W4	c.1590_1601delAGGGGCAGTATG	p.Gly531_Trp534del	chr3:g.71021757_71021768delCATACTGCCCCT	In-frame deletion	De novo

cDNA (NM_032682.5), protein (NP_116071.2/Q9H334–1), and genomic (GRCh37/hg19) changes are shown. Asterisks indicate stop codons
^aIndividual S2 was previously reported by Lozano et al. (2015) [4]
^bIndividual S4 was previously reported by Sollis et al. (2016) (subject 1) [5]
^cIndividual W1 was previously reported by O’Roak et al. (2011) (subject 12817.p1) [10], without clinical description

ISSN: 2040-2392