Table 1.

Mutations Identified in Families with SRPS Type II

Family	Gene	Nucleotide Change	Status	Protein	Location	Mutation Type	Domain
Family 1	NEK1	c.379C>T	homozygous	p.Arg127X	exon 5	nonsense	kinase
Family 2	NEK1	c.869-2A>G	homozygous		intron 10	splice site	basic
Family 3	NEK1	c.1640 dup	heterozygous	p.Asn547LysfsX2	exon18	insertion, frameshift	coiled-coil 2
	DYNC2H1	c.11747G>A	heterozygous	p.Gly3916Asp	exon 82	missense, splice site	C domain