#612997
Table of Contents
A number sign (#) is used with this entry because of evidence that spermatogenic failure-7 (SPGF7) is caused by homozygous mutation in the CATSPER1 gene (606389) on chromosome 11q13.
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Avenarius et al. (2009) identified two 4-generation consanguineous Iranian families segregating nonsyndromic autosomal recessive male infertility. Affected males, 2 in one family and 1 in the other, of first-cousin marriages were identified as being infertile. Clinical analysis of semen from 2 individuals, one from each family, showed normal pH but nonmotile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume.
In 3 infertile males from 2 consanguineous families, Avenarius et al. (2009) investigated short tandem repeat polymorphisms (STRPs) flanking the 4 CATSPER genes for allelic homozygosity by PCR. The CATSPER genes were selected as candidates because their deficiency was known to cause infertility in male mice (e.g., Ren et al., 2001). Regions of homozygosity were expanded with the use of additional STRPs and SNPs, showing that affected males in both families demonstrated autozygosity by descent over a common interval, located on chromosome 11, that spanned approximately 11 cM and included the testis-specific CATSPER1 gene. The combined lod score at this locus, using only males from these 2 families, was 3.13, suggesting that mutations in CATSPER1 could be causally related to the infertility in these men. Regions of autozygosity by descent were not present at the other 3 CATSPER loci.
The transmission pattern of SPGF7 in the families reported by Avenarius et al. (2009) was consistent with autosomal recessive inheritance.
In affected members of two 4-generation consanguineous Iranian families segregating nonsyndromic autosomal recessive male infertility characterized by decreased sperm motility and sperm count and abnormal sperm form, Avenarius et al. (2009) identified 2 distinct homozygous null mutations, both insertions, in the CATSPER1 gene (606389.0001, 606389.0002). Neither mutation was found among 1,152 Iranian control chromosomes.
Avenarius, M. R., Hildebrand, M. S., Zhang, Y., Meyer, N. C., Smith, L. L. H., Kahrizi, K., Najmabadi, H., Smith, R. J. H. Human male infertility caused by mutations in the CATSPER1 channel protein. Am. J. Hum. Genet. 84: 505-510, 2009. [PubMed: 19344877, images, related citations] [Full Text]
Ren, D., Navarro, B., Perez, G., Jackson, A. C., Hsu, S., Shi, Q., Tilly, J. L., Clapham, D. E. A sperm ion channel required for sperm motility and male fertility. Nature 413: 603-609, 2001. [PubMed: 11595941, images, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 276234; DO: 0070173;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 11q13.1 | Spermatogenic failure 7 | 612997 | Autosomal recessive | 3 | CATSPER1 | 606389 |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-7 (SPGF7) is caused by homozygous mutation in the CATSPER1 gene (606389) on chromosome 11q13.
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Avenarius et al. (2009) identified two 4-generation consanguineous Iranian families segregating nonsyndromic autosomal recessive male infertility. Affected males, 2 in one family and 1 in the other, of first-cousin marriages were identified as being infertile. Clinical analysis of semen from 2 individuals, one from each family, showed normal pH but nonmotile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume.
In 3 infertile males from 2 consanguineous families, Avenarius et al. (2009) investigated short tandem repeat polymorphisms (STRPs) flanking the 4 CATSPER genes for allelic homozygosity by PCR. The CATSPER genes were selected as candidates because their deficiency was known to cause infertility in male mice (e.g., Ren et al., 2001). Regions of homozygosity were expanded with the use of additional STRPs and SNPs, showing that affected males in both families demonstrated autozygosity by descent over a common interval, located on chromosome 11, that spanned approximately 11 cM and included the testis-specific CATSPER1 gene. The combined lod score at this locus, using only males from these 2 families, was 3.13, suggesting that mutations in CATSPER1 could be causally related to the infertility in these men. Regions of autozygosity by descent were not present at the other 3 CATSPER loci.
The transmission pattern of SPGF7 in the families reported by Avenarius et al. (2009) was consistent with autosomal recessive inheritance.
In affected members of two 4-generation consanguineous Iranian families segregating nonsyndromic autosomal recessive male infertility characterized by decreased sperm motility and sperm count and abnormal sperm form, Avenarius et al. (2009) identified 2 distinct homozygous null mutations, both insertions, in the CATSPER1 gene (606389.0001, 606389.0002). Neither mutation was found among 1,152 Iranian control chromosomes.
Avenarius, M. R., Hildebrand, M. S., Zhang, Y., Meyer, N. C., Smith, L. L. H., Kahrizi, K., Najmabadi, H., Smith, R. J. H. Human male infertility caused by mutations in the CATSPER1 channel protein. Am. J. Hum. Genet. 84: 505-510, 2009. [PubMed: 19344877] [Full Text: https://doi.org/10.1016/j.ajhg.2009.03.004]
Ren, D., Navarro, B., Perez, G., Jackson, A. C., Hsu, S., Shi, Q., Tilly, J. L., Clapham, D. E. A sperm ion channel required for sperm motility and male fertility. Nature 413: 603-609, 2001. [PubMed: 11595941] [Full Text: https://doi.org/10.1038/35098027]
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