Table 2.

Genetic Characteristics of Study Subjects and Family Members

ID	Sex	Ancestry	WDR45 Mutations Identified		Mutation Status of Family Members
			cDNA (RefSeq NM_007075.3)	Protein (RefSeq NP_009006)	Mother	Father	Sibling (n)
60251	F	German, Irish, English, Austrian	c.1007_1008del	p.Tyr336Cysfs∗5	WT	WT	WT (1)
63700	F	German, Sioux, Cherokee	c.38G>C	p.Arg13Proa	WT	WT	WT (2)
63701	F	German, French, Irish	c.-1_5del	p.Met1?	WT	N/A	N/A
63702	F	African American	c.293T>C	p.Leu98Pro	WT	N/A	WT (1)
63703	F	African American	c.476del	p.Leu159Argfs∗2	N/A	N/A	N/A
63704	F	Hispanic, Puerto Rican	c.19C>T	p.Arg7∗	N/A	N/A	N/A
63705	F	Romanian, French	c.56-1G>A	splicing defect	N/A	N/A	N/A
63706	F	German, Irish, English	c.700C>T	p.Arg234∗	WT	N/A	WT (4)
63707	F	unknown	c.400C>T	p.Arg134∗	WT	WT	WT (3)
63708	M	German, Irish, Scottish	c.228_229del	p.Glu76Aspfs∗38	WT	WT	N/A
63709	F	Italian, northern European, Native American	c.405_409del	p.Lys135Asnfs∗2	N/A	N/A	N/A
63711	F	Dutch	c.359dup	p.Lys121Glufs∗18	WT	WT	WT (4)
63712	F	Scottish, Irish	c.830+1G>A	splicing defect	WT	WT	N/A
49841	M	German	c.19dup	p.Arg7Profs∗64	N/A	N/A	N/A
411-201	F	Italian	c.235+1G>A	splicing defect	WT	WT	N/A
HH56	F	unknown	c.1007_1008del	p.Tyr336Cysfs∗5	WT	WT	N/A
HH84	F	unknown	c.694_703del	p.Leu232Alafs∗53	WT	WT	N/A
NBIA10	F	Pakistani	c.183C>A	p.Asn61Lys	WT	WT	N/A
463	M	English	c.1025_1034delinsACATATTT	p.Gly342Aspfs∗12	N/A	N/A	N/A
152	F	unknown	c.55+1G>C	splicing defect	WT	WT	WT (1)

Numbers in parentheses indicate the amount of tested siblings of the proband. The following abbreviations are used: F, female; M, male; WT, wild-type; and N/A, not available.

^aThis alteration is predicted to cause skipping of exon 3 and usage of an alternate start methionine at position 25.