Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

Table 4 Summary of the anomalies found in HSCR patients subjected to the aCGH analysis

Features	patients analyzed	patients with aberration/s detected^a	patients with “true” aberration/s^a	patients with true aberration/s on DGV^a	patients with true aberration/s not on DGV^a
HSCR form
L/TCA	21	16	12	9	3
S/ultraS	30	21	15^b	9	7
unknown	8	5	4	3	1
gender
M	42	29	23	16	7
F	17	13	8^b	5	4
syndromic
no	49	36	26^b	18	9
yes	10	6	5	3	2
RET mutation
no	45	31	22^b	17	6
yes	14	11	9	4	5
5′ haplotype
risk homo	46	31	23^b	17	7
risk het	1	1	0	0	0
no risk	6 (3 + 3)	5	4	3	1
rare	3	3	2	1	1
unknown	3	2	2	0	2
tot patients	59	42	31^b	21	11
tot aberrations		77 (+ 6 control regions)	37	25	12

^a excluded the four control regions and the region of trisomy for the two HSCR patients with associated Down syndrome. 7q21.11 del found in HSCR005 is included among those “not reported” (last column) although present on DGV database, but at a very low frequency
^b the sum of patients with “true” variants reported and not reported on DGV is different from the overall number of patients with “true” variants as one patient displayed two true aberrations, one on DGV and another one not on DGV

ISSN: 1750-1172