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FEMALE I NFERTI LI TY GENE PANEL ( POI )
RESULTS
X‐linked
Homozygous
Compound heterozygous
Variant combinations
Mosaic ?
CL4 DIAPH2
CL3 HFM1
STAG3 c.[3305dupT]
+[3433G>A] CL5+CL3
VUS TGFBR3 + VUS DAZL +
VUS XPNPEP2 (X)
CL4 DIAPH2 (30% ‐ NGS & Sanger)
FSHR c.[646 G>A]+[c.1313C>T] CL3+CL3
VUS FOXO1 VUS AFF2
CL5 STAG3 c.[3305dupT] (Sanger seq?)
VUS MCM8 VUS POF1B (X)
VUS AMH VUS AFF2 (X)
VUS SOHLH1 VUS XPNPEP2 (X)
CL4 GDF9 VUS MSH5
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The ABC of next generation sequencing-based genetic diagnostics in fertility
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FEMALE I NFERTI LI TY ( POI ) TRI O EXOME ANALYSI S
RESULTS CASE STUDY
▶ Oocyte donation program, history of primary amenorrhea and induced puberty. ▶ FSH 102 UI/l, estradiol < 20 pg/ml
▶ Karyotype and aCGH nl
▶ Laparoscopy at 16yo : streak ovaries
▶ Family history
▶ Parents caucasian non consanguineous
▶ Sister: PA + induced puberty
▶ Mother menopaused at 50yo
▶ Family history of infertility
Trio whole exome sequencing: patient and 2 parents NOBOX compound heterozygous mutation
c.826C>T (paternal)stop gain in exon 4 (homeodomain) c.1421delG (maternal)frame shift in exon 8
The ABC of next generation sequencing-based genetic diagnostics in fertility
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