Fig. 1.

Identification of novel homozygous splicing variant in HFM1. A, B Helicase for meiosis 1 (HFM1) variant was identified in a Chinese consanguineous family with a female patient (F1 II-1) diagnosed with poor ovarian response (POR) and a male patient (F1 II-2) diagnosed with non-obstructive azoospermia (NOA). The equal signs denote infertility, and the double lines between couples represent consanguinity. Squares denote male members, and circles denote female members. Solid symbols indicate the patient with infertility, and open symbols denote unaffected members. Member indicated by black arrow was selected for whole-exome sequencing. The nucleotides affected by the variant in the Sanger sequencing results are indicated by red dashed frame. MT, mutation type; WT, wild type. C Schematic representation of the variants has been reported positions in HFM1 at the genomic and protein levels. The red arrow shows the variant in our family. The schematic gene structure is based on the Ensembl database (GRCh37, transcript ID: NM_001017975.6). The yellow solid rectangles represent exons (exon 1 to 39), and the lines in yellow represent introns. The schematic protein structure is based on the UniProt database (A2PYH4)