#619145
Table of Contents
A number sign (#) is used with this entry because of evidence that spermatogenic failure-50 (SPGF50) is caused by homozygous mutation in the XRCC2 gene (600375) on chromosome 7q36.
Homozygous mutation in XRCC2 has also been reported in premature ovarian failure (see POF17, 619146).
Spermatogenic failure-50 (SPGF50) is characterized by male infertility due to azoospermia resulting from meiotic arrest at prophase I (Yang et al., 2018).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Yang et al. (2018) studied 2 infertile brothers, born of first-cousin parents, from a Tujia ethnic minority family in China. Small testes had been noted at ages 10 and 12 years, and testes were still small at ages 29 and 31. Both were azoospermic, with no sperm observed on percutaneous epididymal sperm aspiration. Testicular biopsy confirmed the absence of sperm and showed meiotic arrest at the zygotene stage of prophase I.
Zhang et al. (2019) reported a consanguineous Chinese family in which a 31-year-old man was infertile due to complete azoospermia; only primary spermatocytes were observed on testicular biopsy. He had normal testicular size and normal hormone levels. His 29-year-old sister had premature ovarian failure (see POF17, 619146).
The transmission pattern of SPGF50 in the family studied by Yang et al. (2018) was consistent with autosomal recessive inheritance.
Yang et al. (2018) performed homozygosity mapping in a consanguineous Chinese family with male infertility and identified 4 homozygous intervals totaling 35.2 Mb, at 2q26.1-q36.3, 7q36.1-qter, 13q12.1-q14.1, and 19p13.2-19p13.3. None of the regions showed overlap with previously described loci associated with azoospermia, meiotic arrest, and infertility.
By whole-exome sequencing in a consanguineous Chinese family in which 2 brothers were infertile due to azoospermia, Yang et al. (2018) identified homozygosity for a missense mutation in the XRCC2 gene (L14P; 600375.0002) that segregated with disease in the family. The authors noted that XRCC2 is located within 1 of the previously identified regions of homozygosity in the 2 affected brothers. Direct sequencing of XRCC2 in 127 unrelated infertile Chinese men with nonobstructive azoospermia did not detect any mutations.
By whole-exome sequencing in a 31-year-old Chinese man with infertility due to azoospermia and his 29-year-old sister with POF, Zhang et al. (2019) identified homozygosity for the L14P mutation in the XRCC2 gene, for which their unaffected first-cousin parents were heterozygous.
Yang, Y., Guo, J., Dai, L., Zhu, Y., Hu, H., Tan, L., Chen, W., Liang, D., He, J., Tu, M., Wang, K., Wu, L. XRCC2 mutation causes meiotic arrest, azoospermia and infertility. J. Med. Genet. 55: 628-636, 2018. [PubMed: 30042186, images, related citations] [Full Text]
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, related citations] [Full Text]
ORPHA: 399808; DO: 0112272;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 7q36.1 | Spermatogenic failure 50 | 619145 | Autosomal recessive | 3 | XRCC2 | 600375 |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-50 (SPGF50) is caused by homozygous mutation in the XRCC2 gene (600375) on chromosome 7q36.
Homozygous mutation in XRCC2 has also been reported in premature ovarian failure (see POF17, 619146).
Spermatogenic failure-50 (SPGF50) is characterized by male infertility due to azoospermia resulting from meiotic arrest at prophase I (Yang et al., 2018).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Yang et al. (2018) studied 2 infertile brothers, born of first-cousin parents, from a Tujia ethnic minority family in China. Small testes had been noted at ages 10 and 12 years, and testes were still small at ages 29 and 31. Both were azoospermic, with no sperm observed on percutaneous epididymal sperm aspiration. Testicular biopsy confirmed the absence of sperm and showed meiotic arrest at the zygotene stage of prophase I.
Zhang et al. (2019) reported a consanguineous Chinese family in which a 31-year-old man was infertile due to complete azoospermia; only primary spermatocytes were observed on testicular biopsy. He had normal testicular size and normal hormone levels. His 29-year-old sister had premature ovarian failure (see POF17, 619146).
The transmission pattern of SPGF50 in the family studied by Yang et al. (2018) was consistent with autosomal recessive inheritance.
Yang et al. (2018) performed homozygosity mapping in a consanguineous Chinese family with male infertility and identified 4 homozygous intervals totaling 35.2 Mb, at 2q26.1-q36.3, 7q36.1-qter, 13q12.1-q14.1, and 19p13.2-19p13.3. None of the regions showed overlap with previously described loci associated with azoospermia, meiotic arrest, and infertility.
By whole-exome sequencing in a consanguineous Chinese family in which 2 brothers were infertile due to azoospermia, Yang et al. (2018) identified homozygosity for a missense mutation in the XRCC2 gene (L14P; 600375.0002) that segregated with disease in the family. The authors noted that XRCC2 is located within 1 of the previously identified regions of homozygosity in the 2 affected brothers. Direct sequencing of XRCC2 in 127 unrelated infertile Chinese men with nonobstructive azoospermia did not detect any mutations.
By whole-exome sequencing in a 31-year-old Chinese man with infertility due to azoospermia and his 29-year-old sister with POF, Zhang et al. (2019) identified homozygosity for the L14P mutation in the XRCC2 gene, for which their unaffected first-cousin parents were heterozygous.
Yang, Y., Guo, J., Dai, L., Zhu, Y., Hu, H., Tan, L., Chen, W., Liang, D., He, J., Tu, M., Wang, K., Wu, L. XRCC2 mutation causes meiotic arrest, azoospermia and infertility. J. Med. Genet. 55: 628-636, 2018. [PubMed: 30042186] [Full Text: https://doi.org/10.1136/jmedgenet-2017-105145]
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]
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