#615841
Table of Contents
A number sign (#) is used with this entry because of evidence that spermatogenic failure-13 (SPGF13) is caused by homozygous mutation in the TAF4B gene (601689) on chromosome 18q11. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Ayhan et al. (2014) studied a consanguineous Turkish family in which 4 of 8 brothers were infertile, 3 of whom were azoospermic. The remaining affected brother was oligozoospermic, with a sperm count of 6 million/mL and normal sperm morphology. The brothers had each been married for 23 to 37 years but had no children, except for the oligozoospermic brother, who had 1 child; an unaffected brother had 9 children. Serum levels of luteinizing hormone (LH; 152780), prolactin (176760), and testosterone were normal, but follicle-stimulating hormone (FSH; 136530) level was increased. A diagnosis of nonobstructive azoospermia was made based on the presence of small testicles and elevated FSH.
The transmission pattern of SPGF13 in the family reported by Ayhan et al. (2014) was consistent with autosomal recessive inheritance.
In a consanguineous Turkish family in which 4 of 8 brothers were infertile but had a normal male karyotype and no microdeletions in the AZF region at Yq11, Ayhan et al. (2014) performed linkage analysis and exome sequencing, following by filtering, to identify homozygosity for a nonsense mutation in the TAF4B gene (R611X; 601689.0001) in the 4 affected brothers. Their fertile brother who had 9 children was heterozygous for the mutation, which was not found in 120 population controls.
Ayhan, O., Balkan, M., Guven, A., Hazan, R., Atar, M., Tok, A., Tolun, A. Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia. J. Med. Genet. 51: 239-244, 2014. [PubMed: 24431330, related citations] [Full Text]
ORPHA: 399805; DO: 0070182;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 18q11.2 | ?Spermatogenic failure 13 | 615841 | Autosomal recessive | 3 | TAF4B | 601689 |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-13 (SPGF13) is caused by homozygous mutation in the TAF4B gene (601689) on chromosome 18q11. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Ayhan et al. (2014) studied a consanguineous Turkish family in which 4 of 8 brothers were infertile, 3 of whom were azoospermic. The remaining affected brother was oligozoospermic, with a sperm count of 6 million/mL and normal sperm morphology. The brothers had each been married for 23 to 37 years but had no children, except for the oligozoospermic brother, who had 1 child; an unaffected brother had 9 children. Serum levels of luteinizing hormone (LH; 152780), prolactin (176760), and testosterone were normal, but follicle-stimulating hormone (FSH; 136530) level was increased. A diagnosis of nonobstructive azoospermia was made based on the presence of small testicles and elevated FSH.
The transmission pattern of SPGF13 in the family reported by Ayhan et al. (2014) was consistent with autosomal recessive inheritance.
In a consanguineous Turkish family in which 4 of 8 brothers were infertile but had a normal male karyotype and no microdeletions in the AZF region at Yq11, Ayhan et al. (2014) performed linkage analysis and exome sequencing, following by filtering, to identify homozygosity for a nonsense mutation in the TAF4B gene (R611X; 601689.0001) in the 4 affected brothers. Their fertile brother who had 9 children was heterozygous for the mutation, which was not found in 120 population controls.
Ayhan, O., Balkan, M., Guven, A., Hazan, R., Atar, M., Tok, A., Tolun, A. Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia. J. Med. Genet. 51: 239-244, 2014. [PubMed: 24431330] [Full Text: https://doi.org/10.1136/jmedgenet-2013-102102]
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