Page 143 - PCC11

FEMALE I NFERTI LI TY GENE PANEL ( POI )
RESULTS
1 pathogenic
14 X-linked
2 homozygous
2 mosaic ?
FEMALE I NFERTI LI TY GENE PANEL ( POI )
RESULTS
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The ABC of next generation sequencing-based genetic diagnostics in fertility
8-6-2018 | 21
The ABC of next generation sequencing-based genetic diagnostics in fertility
8-6-2018 | 22
ESHRE e-poster
82/110 POI patients
47 variants/39 POI patients
3 likely pathogenic
41 VUS
1 likely benign
1 compound heterozygous
6 variant combinations
Gene
AFF2 (X)
AMH
AMHR2
DAZL
DIAPH2 (X)
ESR1
FMR1 (X)
FOXO1
FOXO3
FSHR
GDF9
# variants
5
3
1
2
2
1
1
2
2
3
2
Pathogenicity class
5 VUS
3 VUS
1 VUS
1 VUS
1 likely pathogenic + 1 VUS
1 VUS
1 VUS
2 VUS
2 VUS
3 VUS
1 likely pathogenic + 1VUS
Gene
HFM1
INHA
LHCGR
MCM8
MCH5
NOBOX
POF1B (X)
SOHLH1
STAG3
TGFBR3
XPNPEP2 (X)
# variants
4
2
1
3
1
2
3
1
4
1
3
Pathogenicity class
4 VUS
2 VUS
1 VUS
3 VUS
1 VUS
1 likely pathogenic + 1 likely benign
3 VUS
1 VUS
1 pathogenic
3 VUS
1 VUS
3 VUS
PRECONGRESS COURSE 11 I BARCELONA, SPAIN – 1 JULY 2018 143