Identification of the pathogenic splicing mutation of CNTD1 from the pedigree of diminished ovarian reserve (IMAGE)
Caption
(A) Pedigree of the affected family. Family members are designated by Arabic numerals. The squares denote male family members; the circles denote female family members; the arrow denotes the proband; the solid symbols represent affected family members; the open symbols represent unaffected family members; and the equal signs denote infertility. Sanger sequencing was used to validate the genotypes of the proband and the family members, and representative chromatograms are shown. Individuals who are heterozygous for the CNTD1 mutation (NM_173478.3: c.823-2A > G) show overlapping A and G peaks (I-1, I-2, II-1, parents, and brother of the proband). An individual homozygous for the CNTD1 mutation (NM_173478.3: c.823-2A > G) has a single G peak (II-2, the proband). (B) This CNTD1 mutation (NM_173478.3: c.823-2A > G) is located at a highly conserved region among multiple species, including Macaca mulatta, Mus musculus, Canis lupus familiaris, and Loxodonta Africana. (C) Schematic diagram of the location of the genetic variation in CNTD1 at the genomic level. CNTD1 is encoded on chromosome 17:42798785–42811587 (NCBI38/hg19); the full-length of human CNTD1 mRNA comprises seven exons; the identified CNTD1 homozygous mutation is located in intron 6 adjacent to exon 7 (NM_173478.3: c.823-2A > G).
Credit
Liwei Sun, Yi Chen, Keya Tong, Weiwei Liu, Bei Liu, Yifan Wang, Guoning Huang, Jingyu Li
Usage Restrictions
Credit must be given to the creator. Only noncommercial uses of the work are permitted. No derivatives or adaptations of the work are permitted.
License
CC BY-NC-ND