Table 1 Missense mutations identified in the human DAZL gene. The position of each putative mutation in the DAZL gene sequence is relative to the gene sequence as previously detailed [28].
From: Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men
Position | Exon | Change | Occurrence | ||
|---|---|---|---|---|---|
| Â | Â | Â | Sex (Population) | Genotype | Phenotype |
8169 | 2 | Pro6 → His6 | Female (ovarian failure/menopause group) | Heterozygous | Spontaneous early menopause at age 45. 3 children previously. |
8182 | 2 | Asn10 → Cys10 | Male (infertile male group) | Homozygous | Azoospermia |
| Â | Â | Â | Female (ovarian failure/menopause group) | Heterozygous | Familial early menopause at age 44. 4 children previously. |
8262 | 2 | Ile37 → Ala37 | Female (ovarian failure/menopause group) | Heterozygous | Spontaneous early menopause at age 43. 1 child previously. |
9740 | 5 | Arg115 → Gly115 | Female (premature ovarian failure group) | Homozygous | Spontaneous premature ovarian failure at age 34. 0 children previously. |