Fig. 1

Identification of MSH4 compound heterozygous variants in a patient with diminished ovarian reserve (DOR) via whole exome sequencing (A) The morphology of the oocytes and embryos derived from a fertile control and the DOR patient. In cycle^#1, two oocytes were obtained, one of which was degenerated and immature, while the other was fertilized but arrested at the 5-day embryonic stage with an enlarged polar body (indicated by a red arrow). In cycle^#2, only one oocyte was obtained, which was abnormally fertilized and degenerated at the 3-day stage (indicated by a green arrow highlighting the abnormal fertilization with three pronuclei). (B) Family pedigree of the patient with DOR, where the proband is indicated by a black circle with an arrow. Semi-filled symbols represent carriers of the heterozygous variants. (C) Confirmation of the inheritance pattern of the two variants in MSH4 gene using Sanger sequencing. The c.2374 A > G variant was inherited from the mother, and the c.2222-2225delAAGA variant was inherited from the father