DO: 0080874;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 7q36.1 | ?Premature ovarian failure 17 | 619146 | Autosomal recessive | 3 | XRCC2 | 600375 |
A number sign (#) is used with this entry because of evidence that premature ovarian failure-17 (POF17) is caused by homozygous mutation in the XRCC2 gene (600375) on chromosome 7q36. One such patient has been reported.
Homozygous mutation in XRCC2 has also been reported in spermatogenic failure (see SPGF50, 619145).
Premature ovarian failure-17 (POF17) is characterized by early cessation of menses after initial menarche, with small ovaries and uterus (Zhang et al., 2019).
For a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
Zhang et al. (2019) reported a consanguineous Chinese family in which a 29-year-old woman had premature ovarian failure (POF), and her 31-year-old brother was infertile (see SPGF50, 619145). The woman had been diagnosed with POF at age 16, after undergoing menarche at age 15 years with hypomenorrhea during the following year. Transvaginal ultrasonography showed a relatively small uterus and small ovaries. She had low estradiol and elevated levels of follicle-stimulating hormone (FSH; see 136530) and luteinizing hormone (LH; see 152780). Anti-mullerian hormone (AMH; 600957) and inhibin-B (see 147290) levels were undetectable.
The transmission pattern of POF17 in the family studied by Zhang et al. (2019) was consistent with autosomal recessive inheritance.
By whole-exome sequencing in a 29-year-old Chinese woman with POF and her 31-year-old brother with infertility due to azoospermia, Zhang et al. (2019) identified homozygosity for a missense mutation in the XRCC2 gene (L14P; 600375.0002), for which their unaffected first-cousin parents were heterozygous.
Zhang, Y.-X., Li, H.-Y., He, W.-B., Tu, C., Du, J., Li, W., Lu, G.-X., Lin, G., Yang, Y., Tan, Y.-Q. XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. Clin. Genet. 95: 442-443, 2019. [PubMed: 30489636] [Full Text: https://doi.org/10.1111/cge.13475]