Table 4.

Summary of De Novo Indels in 343 SSC Families

Indel Effect	Proband	Sibling	Proband F	Proband M	Sibling F	Sibling M	Both	Total
Splice site	2	0	0	2	0	0	0	2
Frame shift	32	15	5	27	4	11	0	47
Nonsense	0	1	0	0	1	0	0	1
No frame shift	7	7	0	7	3	4	0	14
UTR	2	1	0	2	1	0	0	3
Intron	10	8	0	10	4	4	1	19
Total	53	32	5	48	13	19	1	86

The detected de novo indels were tabulated based on affected status and gender and stratified by the effects the events are likely to have on the corresponding genes. De novo indels that are likely to severely disrupt the encoded proteins—by causing frame shifts, destroying splice sites, or introducing nonsense codons—are significantly more abundant in affected children than in unaffected siblings. See Table 2 for details of the column headings.