Table 1.

Clinical Features, Origin, Inheritance, and Mutations in KIF22 in All Individuals with Lepto-SEMDJL

Family	Subject	Origin	Short Stature	Skeletal Dysplasia	Laryngeal Stenosis	Joint Laxity	KIF22 Mutation (cDNA)	KIF22 Mutation (Protein)	Inheritance or De Novo
1	1,2,3,4	Italy	+	+	–	+	c.443C>T	p.Pro148Leu	autosomal dominant
2	5,6	UK	+	+	–	+	c.443C>T	p.Pro148Leu	autosomal dominant
3	7,8,9	USA	+	+	–	+	c.446G>A	p.Arg149Gln	autosomal dominant
4	10,11	Italy	+	+	–	+	c.446G>A	p.Arg149Gln	autosomal dominant
5	12,13,14	Japan	+	+	–	+	c.446G>A	p.Arg149Gln	autosomal dominant
6	15,16	UK	+	+	–	+	c.446G>A	p.Arg149Gln	autosomal dominant
7	17,18	Belgium	+	+	+	+	c.446G>A	p.Arg149Gln	autosomal dominant
8	19,20	USA	+	+	not known	+	c.446G>A	p.Arg149Gln	autosomal dominant
9	21	Lebanon	+	+	not known	+	c.446G>A	p.Arg149Gln	de novo
10	22	France	+	+	+	+	c.446G>A	p.Arg149Gln	de novo
11	23	Greece	+	+	–	+	c.446G>A	p.Arg149Gln	de novo
12	24	UK	+	+	+	+	c.446G>A	p.Arg149Gln	de novo
13	25	Germany	+	+	not known	+	c.446G>A	p.Arg149Gln	de novo
14	26	USA	+	+	not known	+	c.446G>A	p.Arg149Gln	de novo
15	27	USA	+	+	not known	+	c.446G>T	p.Arg149Leu	de novo
16	28	USA	+	+	not known	+	c.443C>T	p.Pro148Leu	de novo
17	29	Brazil	+	+	+	+	c.443C>T	p.Pro148Leu	de novo
18	30	Germany	+	+	+	+	c.443C>T	p.Pro148Leu	de novo
19	31	Japan	+	+	+	+	c.443C>T	p.Pro148Leu	de novo
20	32	Italy	+	+	not known	+	c.443C>T	p.Pro148Leu	de novo