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FEMALE I NFERTI LI TY ( POI ) FUNCTI ONAL ANALYSI S
RESULTS CASE STUDY
▶ Oocyte donation program, history of primary amenorrhea and normal breast development ▶ FSH 74UI/L , AMH 1.4 ug/L
▶ Trans- vaginal pelvic ultrasound : small ovaries, AFC : 10 ( max size 5 mm)
▶ Karyotype, X fragile, array CGH Nl, anti adrenal/ovarian Ab negatif
▶ Family History :
▶ Parents Caucasian, non consanguineous
▶ Sister < POI- SA after contraceptive pill arrest
Female Infertility Gene panel< NGS @ BRIGHTcore
▶ Compund heterozygous missense mutations in FSHR ▶ c.646 G> A (Gly216Arg) in exon 8 (ECD)
▶ c.1313C> T (Thr438Ile) in exon 10 (TMD)
▶ In Silico analysis : deleterious and/or probably damaging
▶ In Vitro functional study : > very likely causal
▶ Transient transfection of COS7 cells with wild-type & variant FSHR cDNA ▶ Cell surface expression of FSHR variants tested by FACS
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The ABC of next generation sequencing-based genetic diagnostics in fertility
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ESHRE e-poster
CONCLUSI ONS
NGS-BASED GENETIC DIAGNOSTICS IN INFERTILITY
The ABC of next generation sequencing-based genetic diagnostics in fertility
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